- published: 12 Jun 2014
- views: 6078
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Learn more about pediatric orthopedic care from Children's Hospital of Wisconsin: http://bit.ly/1rqpOp5
Libbie came to Children's Hospital of Wisconsin with Larsen syndrome, a rare genetic disorder, and it was uncertain whether she would ever be able to walk. See her amazing journey.
Ranked highly by U.S. News & World Report and Parents magazines, Children's has exceptional orthopedic expertise. Our team has specialized training in all areas of orthopedic care, from spine, trauma and fracture care, to sports medicine and concussion care. We treat all orthopedic conditions, from routine to serious.
rare diseases|rare disorders|rare strange diseases|list of rare diseases|rare genetic diseases
We'll look at the top 10 rare diseases and rare disorders, some of which you may never have heard of and rare diseases others which you hope you never will again.
Top 10 Rarest Diseases in the World...rare diseases is the infrequency of their occurrence in the human population. Often rare diseases lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined rare diseases by the World Health Organization (WHO) as a rare disease
A rare disease, also referred to as an rare disorders, is any disease that affects a small percentage of the population.
A disease or disorder is defined as rare in US when it affects less than 1 in 2000. One rare disease may affect only a handful of patients in the US, and another touch as many as 245,000.
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
Living with a Rare Disease: stories from patients and families
Children face rare diseases with bravery
Centre for Research into Rare Disease in Children
10 rare dieseases Illnesses: Get the Facts
Rare Disease Database National Organization for Rare diseases
10 Rare Diseases You've Probably Never Heard Of
Journal of Rare Disorders: Medical Diagnosis of Rare Diseases
Genetic and Rare Diseases Information The Ultra Rare Diseases,Disorders & Disabilities Foundation
Ten weird rare diseases that will shock you and make you fell better about yourself
10 Extremely Bizarre Medical Disorders and diseases
Developing cure for Rare Diseases & Conditions advice on Rare Diseases
There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.
Research and Sources:
rare diseases|rare disorders|rare strange diseases|list of rare diseases|genetic and rare diseases|rare genetic diseases|rare genetic disorders|list of rare disorders|rare diseases in children|medical anomalies|people with rare diseases
http://en.wikipedia.org/wiki/Rare_disease
Diprosopus|two faced baby
http://en.wikipedia.org/wiki/Diprosopus
Cyclopia|oneyed baby|baby with one eye
http://en.wikipedia.org/wiki/Cyclopia
Craniopagus parasiticus|baby with two heads|two headed baby
http://en.wikipedia.org/wiki/Craniopagus_parasiticus
Fibrodysplasia Ossificans Progressiva|excessive bone growth
http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva
Hutchinson – Gilford Progeria Syndrome|baby with old age
http://en.wikipedia.org/wiki/Progeria
Ectopia Cordis|born with heart outside of the body
http://en.wikipedia.org/wiki/Ectopia_cordis
Proteus Syndrome
http://en.wikipedia.org/wiki/Proteus_syndrome
Lewandowsky-Lutz dysplasia|Tree Man
http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis
Polymelia|multiple limbs|multiple hands|multiple legs
http://en.wikipedia.org/wiki/Polymelia
Do you agree with our list ? Tell in the comments below what you think are the most rare diseases and disorders.
- published: 29 Jan 2015
- views: 112837
Patient teaching project-- Created using PowToon -- Free sign up at http://www.powtoon.com/ . Make your own animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume, or anything else you could use an animated explainer video. PowToon's animation templates help you create animated presentations and animated explainer videos from scratch. Anyone can produce awesome animations quickly with PowToon, without the cost or hassle other professional animation services require.
- published: 29 Jan 2014
- views: 34891
Genetic Disorder Sufferer Defies Critics To Become International Model
SUBSCRIBE: We upload a new incredible video every weekday. Subscribe to our YouTube channel so you don't miss out:
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A MODEL has hit the big time despite suffering from a rare genetic condition that severely affects her appearance. Melanie Gaydos, 26, was born with Ectodermal Dysplasia, a condition that has left her hair, teeth and skin undeveloped. She often draws stares from other models that are not used to her unconventional look while on set. Melanie's modelling career started to take off when she posed for her photographer boyfriend after moving to New York City four years ago.
Videographer / Director: Ruaridh Connellan
Producer: Jack McKay / Nick Johnson
Editor: Ian Phillips / Sonia Estal
For more compelling footage of the amazing side of life:
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- published: 12 Mar 2015
- views: 614856
http://www.facebook.com/ScienceReason ... Code For Life (Chapter 3): Genetic Disorders And Diseases.
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Please SUBSCRIBE to Science & Reason:
• http://www.youtube.com/Best0fScience
• http://www.youtube.com/ScienceTV
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CODE FOR LIFE:
Beginning more than three and a half billion years ago, a tiny, primitive molecule encoded instructions deep within itself. Then it passed these instructions on to its children, who passed it to their children and so on - all the way down through time to all living things today.
The human genome, written in a code of just four letters, tells us who we really are - and that generates many questions!
Is this process of natural selection coming to an end? Should we choose the best that is in us for our children? If so, who gets to decide what is meant by "the best that is in us"? From amino acids in space to human genes in corn -- this is the story.
1) The Human Genome:
http://www.youtube.com/watch?v=hj_m-1Mzau4
2) The DNA Instruction Manual:
http://www.youtube.com/watch?v=qBfuVuelkoY
3) Genetic Disorders And Diseases:
http://www.youtube.com/watch?v=8s4he3wLgkM
4) Pandora's Box Of Genetics:
http://www.youtube.com/watch?v=tp0qw9gq9hQ
FROM BIG BANG TO MAN:
This is the story of the universe and our place within it. And if that's not enough, we will describe how every atom in existence today came into beeing, how galaxies formed, how our own solar system began. We will trace the progress of life on Earth from its humble beginnings to the emergence of mitochondrial Eve. And from Eve until now, we will follow the progress as humankind spread around the globe.
1. The Baby Universe:
http://www.youtube.com/watch?v=HpFbUI7T6Yk
2. The Present Universe:
http://www.youtube.com/watch?v=XrHMH94Mrk0
3. Origin And Evolution Of Life:
http://www.youtube.com/watch?v=8SgnnV8nV9g
4. The First Humans:
http://www.youtube.com/watch?v=s-nLJI2BZIM
5. Evolution Of Modern Humans:
http://www.youtube.com/watch?v=_KjJ234XPC4
EVOLUTION:
1. Does The Evidence Support Evolution?
http://www.youtube.com/watch?v=p1R8w_QEvEU
2. Vitamin C And Common Ancestry
http://www.youtube.com/watch?v=SF2N2lbb3dk
3. Are We Descended From Viruses?
http://www.youtube.com/watch?v=nIsWZCSMSSs
4. Does The Fossil Record Support Evolution?
http://www.youtube.com/watch?v=QWVoXZPOCGk
5. Where Are The Transitional Forms?
http://www.youtube.com/watch?v=kfTbrHg8KGQ
---
The Cassiopeia Project - making science simple!
The Cassiopeia Project is an effort to make high quality science videos available to everyone. If you can visualize it, then understanding is not far behind.
• http://www.cassiopeiaproject.com
.
- published: 20 Jun 2009
- views: 104936
If you would like to interact with this video and have access to auxiliary materials follow this link (http://curious.com/craigsavage/human-genetic-disorders) - A sample of human genetic disorders
- published: 23 Mar 2012
- views: 34556
Genetic mutations are inevitable.
Although rare they will always exist.
Some can be very disabling, others can be straight from the comic books.
In this list we'll be showing you 5 real genetic mutations.
We would like to give a big shout out to viewer The All Mighty Jetfire for suggesting this video.
-------------------------------------------------------
Find Us On Twitter: https://twitter.com/OfficialAll5
Our Website: http://www.All5.me
Music:
"Unwritten Return" Kevin MacLeod (incompetech.com)
Licensed under Creative Commons: By Attribution 3.0
http://creativecommons.org/licenses/by/3.0/
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5) Can’t Get High Cholesterol
This probably doesn't sound all that great but believe me it's a mutation that millions of people in the past & present wished they had.
You see Cholesterol is known as the silent killer because most people with high cholesterol don't even realize they have it, but it causes strokes, heart attacks, heart disease and more.
Heart disease is one of the biggest if not the biggest killer in many countries.
High Cholesterol is to blame, while a small percentage is genetic, most are caused from lifestyle.
Eating fatty foods especially meat, smoking, drinking alcohol and not exercising all increases ones cholesterol.
In fact the chances are unless you're vegan & really look after yourself 30% of 16-24 year olds and 76% of people aged 45 - 54 have high cholesterol.
However there is a really rare genetic mutation only a few have that regardless of their lifestyle they can't get high cholesterol.
This means they can eat junk, smoke, drink, not exercise & never really suffer killer consequences.
These lucky few people lack working copies of a gene known as PCSK9 and scientists have only found a handful of people all African American who have this mutation.
4) Hypertrichosis
Hypertrichosis is also called “werewolf syndrome” and it affects as few as one in a billion people making it extremely rare.
People with this mutation essentially have excessive hair on their face, shoulders and ears.
The reason for this is to do with a rearrangement of chromosome 8.
What happens in basic language is when the dermis sends signals to create hair follicles, most of our body parts ignore the signal and therefore we end up relatively hairless.
However people with this mutation don't ignore it and end up having hair everywhere.
While other than looking odd, there is no downside to this mutation, in fact I can imagine this mutation would be very handy in the winter months.
3) Ectrodactyly
Formerly known as “lobster claw hand, ”individuals with this disorder have a cleft where the middle finger or toe should be.
These split-hand/split-foot malformations are rare limb deformities which can manifest in any number of ways.
It’s also associated with hearing loss. Genetically speaking, it’s caused by several factors, including deletions, trans-locations, and inversions in chromosome 7.
A 2007 ABC article featured Bree Walker, a television anchorwoman living in Los Angeles who lives with the disease.
Thankfully, surgical procedures can correct some of these malformations.
2) Uner Tan Syndrome
Uner Tan syndrome is a somewhat controversial condition, whose most obvious property is that people who suffer from it walk on all fours.
UTS is a syndrome that was proposed by the Turkish evolutionary biologist Üner Tan after studying five members of the Ulaş family in rural Turkey.
These individuals walk on all fours & use primitive speech.
While Tan says this mutation is caused by evolution, some experts believe evolution or genetics may have very little to do with it.
1) Progeria
This genetic disorder is as rare as it is severe affecting about one in eight million live births.
Essentially this horrible disease causes accelerated aging.
Most children who have progeria die of age-related diseases around the age of 13, but some can live into their 20s.
Death is typically caused by a heart attack or stroke.
The disease is caused by a mutation in the LMNA gene, a protein that provides support to the cell nucleus.
Other symptoms of progeria include rigid skin, full body baldness, bone abnormalities, growth impairment, and a characteristic “sculptured” nasal tip.
Thank you for watching and if you enjoyed this video don't forget to Like, Share, Comment & Subscribe for more awesome lists of All Things 5!
Until Next Time... Feed Your Mind!
- published: 09 Oct 2015
- views: 6045
The Human Body in Health & Disease, Thibodeau.
Chapter 24 Vodcast
MCO 150: Medical Specialties & Pathophysiology
Central Maine Community College
Taught by: Sarah Varney, RN, BSN, CCRN
- published: 30 Jul 2012
- views: 6366
A toddler suffers from a rare genetic condition which means he cannot stop smiling.
Ollie Petherick, two, from Devizes, Wiltshire, was born with Angelman syndrome - a chromosome disorder which causes severe learning difficulties -- and puts a permanent smile on his face.
Sufferers present a happy demeanour, so are often smiling or laughing, and tend to be easily excited.
The condition is so rare that less than 1,000 cases have been reported in the UK.
Ollie's mother, Annie Campbell, said: 'Ollie's smile and happy personality just makes everything worthwhile.
'I can be seriously sleep deprived but his smile never fails to cheer me up - he has a knack of really making you feel his excitement and his giggle is just amazing.
'The only thing any parent wants is for their child to be happy, and I know that with Ollie, I will always have that.'
Ms Campbell, 24, often receives compliments about her little boy's beaming smile.
She said: 'We get a lot of comments about his smile when we're out which his lovely - it really does make you happy when you see his grin.
'He was a very relaxed and placid baby too - he'd always babble away to himself without a care in the world.'
Ms Campbell, who is now a full time carer for her son, only discovered Ollie's condition when she noticed he couldn't focus on things properly.
She said: 'Ollie was six-months-old when I started to notice that his development was delayed - his older brother was much more advanced at his age.
'Then, one evening, I spent hours trying to get him to follow my finger with his eyes, and he just couldn't do it.
'I really started to worry, so the next morning I went to the GP to be on the safe side.
'We were referred to the hospital where they did eye tests, but we were eventually told that Ollie suffered from something neurological, but they weren't quite sure what.'
Ms Campbell was then transferred to a second hospital where her little boy underwent more tests.
Meanwhile, she had come across Angelman syndrome in a magazine, and was convinced it was what her son suffered from.
She said: 'I'd read an article in the magazine and the symptoms they were described were exactly the same as Ollie's.
'I rang his dad straight away and told him that Ollie had Angelman - I was certain of it.
'I just knew that's what he had, and then two days later - six weeks after our first appointment - it was confirmed by the doctors.
'By this point, I'd already convinced myself he had Angelman, so it was a relief to finally get a diagnosis. I just wanted to learn as much as I could about it so I knew how to help Ollie.
'I went online and tried to find out as much as possible. I read that Angelman was to do with a deletion of a chromosome -- it's funny how such a tiny thing like that can affect someone so much.
'I found support groups and other mum's who had children with Angelman too, that's how I got the most help and information.'
Ms Campbell added: 'Ollie won't be able to speak or walk with ease when he grows up which is upsetting.
'I do worry about him in the future - I wonder how I'll know if he is ever upset or sad, when the Angelman makes him so happy all the time.
'But at the moment I just enjoy the lovely little boy that I have.'
Support : http://www.angelmanuk.org/
Blog : http://patrynworldlatestnews.blogspot.com/
Facebook : https://www.facebook.com/patryn.worldlatestnews
- published: 04 Sep 2013
- views: 56201
A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top doctor about this genetic disorder.
Subscribe to the Parents channel: http://po.st/SubscribeToParents
About Parents: We’re here to help moms and dads raise happy, healthy kids—and have A LOT of fun along the way. Parents features information about child health, safety, behavior, discipline and education. There are also stories on women's health, nutrition, pregnancy, marriage, and beauty. It is aimed primarily at women ages 18–35 with young children.
Follow us today to become the best parent you can be!
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- published: 12 Mar 2010
- views: 38143
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions.
A genetic disorder may or may not be a heritable disorder. Some genetic disorders are passed down from the parents' genes, but others are always or almost always caused by new mutations or changes to the DNA. In other cases, the same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by nongenetic causes in still other people.
Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present.
This page contains text from Wikipedia, the Free Encyclopedia -
http://en.wikipedia.org/wiki/Genetic_disorder
This article is licensed under the Creative Commons Attribution-ShareAlike 3.0 Unported License, which means that you can copy and modify it as long as the entire work (including additions) remains under this license.
This article is licensed under the Creative Commons Attribution-ShareAlike 3.0 Unported License, which means that you can copy and modify it as long as the entire work (including additions) remains under this license.
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1:59Libbie's story: Larsen syndrome, a rare genetic disorder
Libbie's story: Larsen syndrome, a rare genetic disorderLibbie's story: Larsen syndrome, a rare genetic disorder
Learn more about pediatric orthopedic care from Children's Hospital of Wisconsin: http://bit.ly/1rqpOp5 Libbie came to Children's Hospital of Wisconsin with Larsen syndrome, a rare genetic disorder, and it was uncertain whether she would ever be able to walk. See her amazing journey. Ranked highly by U.S. News & World Report and Parents magazines, Children's has exceptional orthopedic expertise. Our team has specialized training in all areas of orthopedic care, from spine, trauma and fracture care, to sports medicine and concussion care. We treat all orthopedic conditions, from routine to serious. -
3:27Top 10 Rare Diseases and Rare Disorders You Do Not know about
Top 10 Rare Diseases and Rare Disorders You Do Not know aboutTop 10 Rare Diseases and Rare Disorders You Do Not know about
rare diseases|rare disorders|rare strange diseases|list of rare diseases|rare genetic diseases We'll look at the top 10 rare diseases and rare disorders, some of which you may never have heard of and rare diseases others which you hope you never will again. Top 10 Rarest Diseases in the World...rare diseases is the infrequency of their occurrence in the human population. Often rare diseases lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined rare diseases by the World Health Organization (WHO) as a rare disease A rare disease, also referred to as an rare disorders, is any disease that affects a small percentage of the population. A disease or disorder is defined as rare in US when it affects less than 1 in 2000. One rare disease may affect only a handful of patients in the US, and another touch as many as 245,000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. Living with a Rare Disease: stories from patients and families Children face rare diseases with bravery Centre for Research into Rare Disease in Children 10 rare dieseases Illnesses: Get the Facts Rare Disease Database National Organization for Rare diseases 10 Rare Diseases You've Probably Never Heard Of Journal of Rare Disorders: Medical Diagnosis of Rare Diseases Genetic and Rare Diseases Information The Ultra Rare Diseases,Disorders & Disabilities Foundation Ten weird rare diseases that will shock you and make you fell better about yourself 10 Extremely Bizarre Medical Disorders and diseases Developing cure for Rare Diseases & Conditions advice on Rare Diseases There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease. A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday. Research and Sources: rare diseases|rare disorders|rare strange diseases|list of rare diseases|genetic and rare diseases|rare genetic diseases|rare genetic disorders|list of rare disorders|rare diseases in children|medical anomalies|people with rare diseases http://en.wikipedia.org/wiki/Rare_disease Diprosopus|two faced baby http://en.wikipedia.org/wiki/Diprosopus Cyclopia|oneyed baby|baby with one eye http://en.wikipedia.org/wiki/Cyclopia Craniopagus parasiticus|baby with two heads|two headed baby http://en.wikipedia.org/wiki/Craniopagus_parasiticus Fibrodysplasia Ossificans Progressiva|excessive bone growth http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva Hutchinson – Gilford Progeria Syndrome|baby with old age http://en.wikipedia.org/wiki/Progeria Ectopia Cordis|born with heart outside of the body http://en.wikipedia.org/wiki/Ectopia_cordis Proteus Syndrome http://en.wikipedia.org/wiki/Proteus_syndrome Lewandowsky-Lutz dysplasia|Tree Man http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis Polymelia|multiple limbs|multiple hands|multiple legs http://en.wikipedia.org/wiki/Polymelia Do you agree with our list ? Tell in the comments below what you think are the most rare diseases and disorders. -
4:18Dominant and Recessive Genetic Disorders
Dominant and Recessive Genetic DisordersDominant and Recessive Genetic Disorders
Patient teaching project-- Created using PowToon -- Free sign up at http://www.powtoon.com/ . Make your own animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume, or anything else you could use an animated explainer video. PowToon's animation templates help you create animated presentations and animated explainer videos from scratch. Anyone can produce awesome animations quickly with PowToon, without the cost or hassle other professional animation services require. -
5:08Genetic Disorder Sufferer Defies Critics To Become International Model
Genetic Disorder Sufferer Defies Critics To Become International ModelGenetic Disorder Sufferer Defies Critics To Become International Model
Genetic Disorder Sufferer Defies Critics To Become International Model SUBSCRIBE: We upload a new incredible video every weekday. Subscribe to our YouTube channel so you don't miss out: http://bit.ly/Oc61Hj A MODEL has hit the big time despite suffering from a rare genetic condition that severely affects her appearance. Melanie Gaydos, 26, was born with Ectodermal Dysplasia, a condition that has left her hair, teeth and skin undeveloped. She often draws stares from other models that are not used to her unconventional look while on set. Melanie's modelling career started to take off when she posed for her photographer boyfriend after moving to New York City four years ago. Videographer / Director: Ruaridh Connellan Producer: Jack McKay / Nick Johnson Editor: Ian Phillips / Sonia Estal For more compelling footage of the amazing side of life: FACEBOOK: Like Barcroft TV - https://www.Facebook.com/BarcroftTV TWITTER: Follow @Barcroft_TV - https://www.Twitter.com/Barcroft_TV WEBSITE: For licensing & business enquiries, visit the Barcroft Media site - https://www.Barcroftmedia.com -
9:31Genetic Disorders And Diseases
Genetic Disorders And DiseasesGenetic Disorders And Diseases
http://www.facebook.com/ScienceReason ... Code For Life (Chapter 3): Genetic Disorders And Diseases. --- Please SUBSCRIBE to Science & Reason: • http://www.youtube.com/Best0fScience • http://www.youtube.com/ScienceTV • http://www.youtube.com/FFreeThinker --- CODE FOR LIFE: Beginning more than three and a half billion years ago, a tiny, primitive molecule encoded instructions deep within itself. Then it passed these instructions on to its children, who passed it to their children and so on - all the way down through time to all living things today. The human genome, written in a code of just four letters, tells us who we really are - and that generates many questions! Is this process of natural selection coming to an end? Should we choose the best that is in us for our children? If so, who gets to decide what is meant by "the best that is in us"? From amino acids in space to human genes in corn -- this is the story. 1) The Human Genome: http://www.youtube.com/watch?v=hj_m-1Mzau4 2) The DNA Instruction Manual: http://www.youtube.com/watch?v=qBfuVuelkoY 3) Genetic Disorders And Diseases: http://www.youtube.com/watch?v=8s4he3wLgkM 4) Pandora's Box Of Genetics: http://www.youtube.com/watch?v=tp0qw9gq9hQ FROM BIG BANG TO MAN: This is the story of the universe and our place within it. And if that's not enough, we will describe how every atom in existence today came into beeing, how galaxies formed, how our own solar system began. We will trace the progress of life on Earth from its humble beginnings to the emergence of mitochondrial Eve. And from Eve until now, we will follow the progress as humankind spread around the globe. 1. The Baby Universe: http://www.youtube.com/watch?v=HpFbUI7T6Yk 2. The Present Universe: http://www.youtube.com/watch?v=XrHMH94Mrk0 3. Origin And Evolution Of Life: http://www.youtube.com/watch?v=8SgnnV8nV9g 4. The First Humans: http://www.youtube.com/watch?v=s-nLJI2BZIM 5. Evolution Of Modern Humans: http://www.youtube.com/watch?v=_KjJ234XPC4 EVOLUTION: 1. Does The Evidence Support Evolution? http://www.youtube.com/watch?v=p1R8w_QEvEU 2. Vitamin C And Common Ancestry http://www.youtube.com/watch?v=SF2N2lbb3dk 3. Are We Descended From Viruses? http://www.youtube.com/watch?v=nIsWZCSMSSs 4. Does The Fossil Record Support Evolution? http://www.youtube.com/watch?v=QWVoXZPOCGk 5. Where Are The Transitional Forms? http://www.youtube.com/watch?v=kfTbrHg8KGQ --- The Cassiopeia Project - making science simple! The Cassiopeia Project is an effort to make high quality science videos available to everyone. If you can visualize it, then understanding is not far behind. • http://www.cassiopeiaproject.com . -
10:18Genetics Part 5: Human Genetic Disorders
Genetics Part 5: Human Genetic DisordersGenetics Part 5: Human Genetic Disorders
If you would like to interact with this video and have access to auxiliary materials follow this link (http://curious.com/craigsavage/human-genetic-disorders) - A sample of human genetic disorders -
4:575 Real Strange Genetic Mutations!
5 Real Strange Genetic Mutations!5 Real Strange Genetic Mutations!
Genetic mutations are inevitable. Although rare they will always exist. Some can be very disabling, others can be straight from the comic books. In this list we'll be showing you 5 real genetic mutations. We would like to give a big shout out to viewer The All Mighty Jetfire for suggesting this video. ------------------------------------------------------- Find Us On Twitter: https://twitter.com/OfficialAll5 Our Website: http://www.All5.me Music: "Unwritten Return" Kevin MacLeod (incompetech.com) Licensed under Creative Commons: By Attribution 3.0 http://creativecommons.org/licenses/by/3.0/ ------------------------------------------------------- 5) Can’t Get High Cholesterol This probably doesn't sound all that great but believe me it's a mutation that millions of people in the past & present wished they had. You see Cholesterol is known as the silent killer because most people with high cholesterol don't even realize they have it, but it causes strokes, heart attacks, heart disease and more. Heart disease is one of the biggest if not the biggest killer in many countries. High Cholesterol is to blame, while a small percentage is genetic, most are caused from lifestyle. Eating fatty foods especially meat, smoking, drinking alcohol and not exercising all increases ones cholesterol. In fact the chances are unless you're vegan & really look after yourself 30% of 16-24 year olds and 76% of people aged 45 - 54 have high cholesterol. However there is a really rare genetic mutation only a few have that regardless of their lifestyle they can't get high cholesterol. This means they can eat junk, smoke, drink, not exercise & never really suffer killer consequences. These lucky few people lack working copies of a gene known as PCSK9 and scientists have only found a handful of people all African American who have this mutation. 4) Hypertrichosis Hypertrichosis is also called “werewolf syndrome” and it affects as few as one in a billion people making it extremely rare. People with this mutation essentially have excessive hair on their face, shoulders and ears. The reason for this is to do with a rearrangement of chromosome 8. What happens in basic language is when the dermis sends signals to create hair follicles, most of our body parts ignore the signal and therefore we end up relatively hairless. However people with this mutation don't ignore it and end up having hair everywhere. While other than looking odd, there is no downside to this mutation, in fact I can imagine this mutation would be very handy in the winter months. 3) Ectrodactyly Formerly known as “lobster claw hand, ”individuals with this disorder have a cleft where the middle finger or toe should be. These split-hand/split-foot malformations are rare limb deformities which can manifest in any number of ways. It’s also associated with hearing loss. Genetically speaking, it’s caused by several factors, including deletions, trans-locations, and inversions in chromosome 7. A 2007 ABC article featured Bree Walker, a television anchorwoman living in Los Angeles who lives with the disease. Thankfully, surgical procedures can correct some of these malformations. 2) Uner Tan Syndrome Uner Tan syndrome is a somewhat controversial condition, whose most obvious property is that people who suffer from it walk on all fours. UTS is a syndrome that was proposed by the Turkish evolutionary biologist Üner Tan after studying five members of the Ulaş family in rural Turkey. These individuals walk on all fours & use primitive speech. While Tan says this mutation is caused by evolution, some experts believe evolution or genetics may have very little to do with it. 1) Progeria This genetic disorder is as rare as it is severe affecting about one in eight million live births. Essentially this horrible disease causes accelerated aging. Most children who have progeria die of age-related diseases around the age of 13, but some can live into their 20s. Death is typically caused by a heart attack or stroke. The disease is caused by a mutation in the LMNA gene, a protein that provides support to the cell nucleus. Other symptoms of progeria include rigid skin, full body baldness, bone abnormalities, growth impairment, and a characteristic “sculptured” nasal tip. Thank you for watching and if you enjoyed this video don't forget to Like, Share, Comment & Subscribe for more awesome lists of All Things 5! Until Next Time... Feed Your Mind! -
19:35Chapter 24 - Genetics and Genetic Disease
Chapter 24 - Genetics and Genetic DiseaseChapter 24 - Genetics and Genetic Disease
The Human Body in Health & Disease, Thibodeau. Chapter 24 Vodcast MCO 150: Medical Specialties & Pathophysiology Central Maine Community College Taught by: Sarah Varney, RN, BSN, CCRN -
3:44Angelman syndrome : Boy who never stops SMILING with rare genetic disorder
Angelman syndrome : Boy who never stops SMILING with rare genetic disorderAngelman syndrome : Boy who never stops SMILING with rare genetic disorder
A toddler suffers from a rare genetic condition which means he cannot stop smiling. Ollie Petherick, two, from Devizes, Wiltshire, was born with Angelman syndrome - a chromosome disorder which causes severe learning difficulties -- and puts a permanent smile on his face. Sufferers present a happy demeanour, so are often smiling or laughing, and tend to be easily excited. The condition is so rare that less than 1,000 cases have been reported in the UK. Ollie's mother, Annie Campbell, said: 'Ollie's smile and happy personality just makes everything worthwhile. 'I can be seriously sleep deprived but his smile never fails to cheer me up - he has a knack of really making you feel his excitement and his giggle is just amazing. 'The only thing any parent wants is for their child to be happy, and I know that with Ollie, I will always have that.' Ms Campbell, 24, often receives compliments about her little boy's beaming smile. She said: 'We get a lot of comments about his smile when we're out which his lovely - it really does make you happy when you see his grin. 'He was a very relaxed and placid baby too - he'd always babble away to himself without a care in the world.' Ms Campbell, who is now a full time carer for her son, only discovered Ollie's condition when she noticed he couldn't focus on things properly. She said: 'Ollie was six-months-old when I started to notice that his development was delayed - his older brother was much more advanced at his age. 'Then, one evening, I spent hours trying to get him to follow my finger with his eyes, and he just couldn't do it. 'I really started to worry, so the next morning I went to the GP to be on the safe side. 'We were referred to the hospital where they did eye tests, but we were eventually told that Ollie suffered from something neurological, but they weren't quite sure what.' Ms Campbell was then transferred to a second hospital where her little boy underwent more tests. Meanwhile, she had come across Angelman syndrome in a magazine, and was convinced it was what her son suffered from. She said: 'I'd read an article in the magazine and the symptoms they were described were exactly the same as Ollie's. 'I rang his dad straight away and told him that Ollie had Angelman - I was certain of it. 'I just knew that's what he had, and then two days later - six weeks after our first appointment - it was confirmed by the doctors. 'By this point, I'd already convinced myself he had Angelman, so it was a relief to finally get a diagnosis. I just wanted to learn as much as I could about it so I knew how to help Ollie. 'I went online and tried to find out as much as possible. I read that Angelman was to do with a deletion of a chromosome -- it's funny how such a tiny thing like that can affect someone so much. 'I found support groups and other mum's who had children with Angelman too, that's how I got the most help and information.' Ms Campbell added: 'Ollie won't be able to speak or walk with ease when he grows up which is upsetting. 'I do worry about him in the future - I wonder how I'll know if he is ever upset or sad, when the Angelman makes him so happy all the time. 'But at the moment I just enjoy the lovely little boy that I have.' Support : http://www.angelmanuk.org/ Blog : http://patrynworldlatestnews.blogspot.com/ Facebook : https://www.facebook.com/patryn.worldlatestnews -
4:52Genetic Disorders | Parents
Genetic Disorders | ParentsGenetic Disorders | Parents
A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top doctor about this genetic disorder. Subscribe to the Parents channel: http://po.st/SubscribeToParents About Parents: We’re here to help moms and dads raise happy, healthy kids—and have A LOT of fun along the way. Parents features information about child health, safety, behavior, discipline and education. There are also stories on women's health, nutrition, pregnancy, marriage, and beauty. It is aimed primarily at women ages 18–35 with young children. Follow us today to become the best parent you can be! Official Parents Website: http://po.st/ParentsOnline Follow Parents on FACEBOOK: http://po.st/ParentsOnFacebook Follow Parents on TWITTER: http://po.st/ParentsOnTwitter Follow Parents on PINTEREST: http://po.st/ParentsOnPinterest Follow Parents on INSTAGRAM: http://po.st/ParentsOnInstagram
- Acatalasia
- Achondrogenesis
- Achondroplasia
- ACVRL1
- Adrenoleukodystrophy
- Aicardi syndrome
- Alport syndrome
- Alström syndrome
- Androgenic alopecia
- Apert syndrome
- Aquaporin 2
- Asthma
- Autoimmune disease
- Autosomal dominant
- Autosome
- AVPR2
- Axenfeld syndrome
- Barakat syndrome
- Bart syndrome
- Bartter syndrome
- Basal body
- Bestrophin 1
- Bethlem myopathy
- Biobank
- Biological database
- Biological specimen
- BMPR1A
- Brugada syndrome
- Bullous pemphigoid
- CACNB2
- Calcium channel
- Campomelic dysplasia
- Cancers
- Cav1.1
- Cav1.2
- Cav1.4
- Cav2.1
- CD117
- CD40 (protein)
- Central core disease
- Centrosome
- Channelopathy
- Chloride channel
- Chromosome
- Ciliopathy
- CLCN1
- CLCN5
- CLCN7
- CLCNKB
- Cleft lip and palate
- Cleft palate
- COL1
- COL3
- COL4
- COL5
- COL7
- Collagen disease
- Collagen VI
- Color blindness
- Connexin
- CREB-binding protein
- Crohn's disease
- Crouzon syndrome
- Currarino syndrome
- Cystic fibrosis
- Cystinuria
- Danon disease
- De Vivo disease
- De-identification
- Dent's disease
- Denys–Drash syndrome
- Diabetes
- Disease
- Dominance (genetics)
- Donohue syndrome
- Earwax
- EDAR
- EMedicine
- Endoglin
- Endothelin receptor
- Episodic ataxia
- Erythromelalgia
- Fas receptor
- Febrile seizure
- Feingold syndrome
- Ferroportin
- Forkhead box L2
- FOXC1
- FOXC2
- FOXE1
- FOXE3
- FOXF1
- FOXI1
- FOXP3
- FSH-receptor
- Fuchs' dystrophy
- FZD4
- Galactosemia
- Gauchers disease
- Gene
- Gene therapy
- Genetic disorder
- Genetic epidemiology
- Genetic linkage
- Genomic imprinting
- Gillespie syndrome
- Gitelman syndrome
- GJB1
- GJB2
- GJB3
- GJB4
- GJB6
- GLUT1
- GLUT5
- Guanylate cyclase
- GUCY2D
- Hartnup disease
- Hay–Wells syndrome
- Heart disease
- Hemophilia
- Hemophilia A
- HLXB9
- Holt–Oram syndrome
- Hormone receptor
- HOXD13
- HR (gene)
- Human Genome Project
- Huntington's disease
- Hypertension
- Hypertrichosis
- Hypochondrogenesis
- Hypochondroplasia
- Hypodontia
- Ichthyosis hystrix
- IL2RG
- Illness
- Infertility
- Insulin receptor
- Integrin
- IPEX syndrome
- IPF1
- IRF6
- Joubert syndrome
- Kabuki syndrome
- Kallmann syndrome
- KCNA1
- KCNA5
- KCNC3
- KCNE1
- KCNE2
- KCNE3
- KCNH2
- KCNJ18
- KCNJ2
- KCNQ1
- KCNQ2
- Kennedy's disease
- Kir6.2
- Klinefelter syndrome
- Kniest dysplasia
- Laminin
- Laron syndrome
- LDL receptor
- Lesch-Nyhan syndrome
- Li-Fraumeni syndrome
- Liddle's syndrome
- Lissencephaly
- LMX1B
- Loeys-Dietz syndrome
- Long QT syndrome
- LRP2
- LRP5
- Malaria
- Marfan syndrome
- Marshall syndrome
- MCOLN1
- Meckel syndrome
- Medical genetics
- Mendelian
- Mental retardation
- Miglustat
- Mitochondrial DNA
- Mitotic spindle
- MODY 1
- MODY 3
- MODY 4
- MODY 5
- Mood disorder
- MSX1
- Muenke syndrome
- Multiple sclerosis
- Mutation
- Myotonia congenita
- Myotonic dystrophy
- Nephronophthisis
- Niemann-Pick disease
- Obesity
- Ocular albinism
- Ohtahara syndrome
- Osteopetrosis
- PAX2
- PAX3
- PAX4
- PAX6
- PAX8
- PAX9
- Pendred syndrome
- Pendrin
- Penetrance
- Peroxisomal disorder
- Personal genomics
- Pfeiffer syndrome
- Phenylketonuria
- Piebaldism
- PITX2
- Porin (protein)
- Potassium channel
- POU3F4
- POU4F3
- Predictive medicine
- PTCH1
- PTH1R
- PubMed Identifier
- Raine syndrome
- Recessive gene
- Refractive error
- Refsum disease
- Renal glycosuria
- Retinitis pigmentosa
- Rett syndrome
- Roberts syndrome
- Robinow syndrome
- Romano-Ward syndrome
- ROMK
- ROR2
- RYR1
- RYR2
- Salla disease
- SCN1A
- SCN1B
- SCN4A
- SCN4B
- SCN5A
- SCN9A
- SCNN1A
- SCNN1B
- SCNN1G
- Sex linkage
- Short QT syndrome
- Sickle cell anemia
- Sickle-cell anemia
- Sickle-cell disease
- SLC11A1
- SLC16A1
- SLC16A2
- SLC17A5
- SLC17A8
- SLC26A2
- SLC2A10
- SLC35C1
- SLC39A4
- SLC3A1
- SLC4A1
- SLC4A11
- SLC5A1
- SLC5A2
- SLC6A19
- SLC7A7
- SLC7A9
- SNP array
- Sodium channel
- SOX10
- Stickler syndrome
- Synpolydactyly
- Tay-Sachs disease
- TCF4
- TECTA
- Template Ciliopathy
- TGF beta receptor 1
- TGF beta receptor 2
- TGF beta receptors
- Thomsen disease
- Thyrotropin receptor
- Tietz syndrome
- Timothy syndrome
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TP63
- Transcription factor
- TrkA receptor
- TRPC6
- Turner syndrome
- Type-II collagen
- Uniparental disomy
- Vohwinkel syndrome
- Waardenburg syndrome
- WebMD
- Worth syndrome
- X chromosome
- X-linked dominant
- X-linked recessive
- Y linkage
- ZEB1
- ZEB2
- Zellweger syndrome
- ZFP57
- Zygosity
Genetic Disorder
ALBUMS
- Sinusrhythmus released: 2013
- Synapsentanz released: 2010
Sinusrhythmus
Released 2013- add to main playlist Play in Full Screen Metagenesis
- add to main playlist Play in Full Screen Phantomschmerz
- add to main playlist Play in Full Screen Überdosis
- add to main playlist Play in Full Screen Tumor
- add to main playlist Play in Full Screen Lasterluder
- add to main playlist Play in Full Screen Anästhetikum
- add to main playlist Play in Full Screen Tetrodotoxin
- add to main playlist Play in Full Screen Koma
- add to main playlist Play in Full Screen Überdosis (Audio Toxic mix)
- add to main playlist Play in Full Screen Lasterluder (remix by Meik R.)
- add to main playlist Play in Full Screen Anästhetikum (Painless mix by Extize)
Synapsentanz
Released 2010- add to main playlist Play in Full Screen Angstillusion
- add to main playlist Play in Full Screen Dysfunction
- add to main playlist Play in Full Screen Patientenf**k
- add to main playlist Play in Full Screen Endzeit
- add to main playlist Play in Full Screen Haloperidol
- add to main playlist Play in Full Screen Heilung
- add to main playlist Play in Full Screen Trauma
- add to main playlist Play in Full Screen Gedankenmacht
- add to main playlist Play in Full Screen Schizophrenie
- add to main playlist Play in Full Screen Generation-X
- add to main playlist Play in Full Screen Heilung (Letzte Ausfahrt Leben remix)
- add to main playlist Play in Full Screen Patientenf**k (club version)
- add to main playlist Play in Full Screen Trauma (Project Rotten remix)
- add to main playlist Play in Full Screen Generation-X (Generated for Future by Cy-Gor)
- add to main playlist Play in Full Screen Endzeit (V2A Salvation mix 2010)
-
Libbie's story: Larsen syndrome, a rare genetic disorder
Learn more about pediatric orthopedic care from Children's Hospital of Wisconsin: http://bit.ly/1rqpOp5 Libbie came to Children's Hospital of Wisconsin with Larsen syndrome, a rare genetic disorder, and it was uncertain whether she would ever be able to walk. See her amazing journey. Ranked highly by U.S. News & World Report and Parents magazines, Children's has exceptional orthopedic expertise. Our team has specialized training in all areas of orthopedic care, from spine, trauma and fracture care, to sports medicine and concussion care. We treat all orthopedic conditions, from routine to serious. -
Top 10 Rare Diseases and Rare Disorders You Do Not know about
rare diseases|rare disorders|rare strange diseases|list of rare diseases|rare genetic diseases We'll look at the top 10 rare diseases and rare disorders, some of which you may never have heard of and rare diseases others which you hope you never will again. Top 10 Rarest Diseases in the World...rare diseases is the infrequency of their occurrence in the human population. Often rare diseases lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined rare diseases by the World Health Organization (WHO) as a rare disease A rare disease, also referred to as an rare disorders, is any disease that affects a small percentage of the population. A disease or disorder is defined as rare in US when it affects less than 1 in 2000. One rare disease may affect... -
Dominant and Recessive Genetic Disorders
Patient teaching project-- Created using PowToon -- Free sign up at http://www.powtoon.com/ . Make your own animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume, or anything else you could use an animated explainer video. PowToon's animation templates help you create animated presentations and animated explainer videos from scratch. Anyone can produce awesome animations quickly with PowToon, without the cost or hassle other professional animation services require. -
Genetic Disorder Sufferer Defies Critics To Become International Model
Genetic Disorder Sufferer Defies Critics To Become International Model SUBSCRIBE: We upload a new incredible video every weekday. Subscribe to our YouTube channel so you don't miss out: http://bit.ly/Oc61Hj A MODEL has hit the big time despite suffering from a rare genetic condition that severely affects her appearance. Melanie Gaydos, 26, was born with Ectodermal Dysplasia, a condition that has left her hair, teeth and skin undeveloped. She often draws stares from other models that are not used to her unconventional look while on set. Melanie's modelling career started to take off when she posed for her photographer boyfriend after moving to New York City four years ago. Videographer / Director: Ruaridh Connellan Producer: Jack McKay / Nick Johnson Editor: Ian Phillips / Sonia Estal Fo... -
Genetic Disorders And Diseases
http://www.facebook.com/ScienceReason ... Code For Life (Chapter 3): Genetic Disorders And Diseases. --- Please SUBSCRIBE to Science & Reason: • http://www.youtube.com/Best0fScience • http://www.youtube.com/ScienceTV • http://www.youtube.com/FFreeThinker --- CODE FOR LIFE: Beginning more than three and a half billion years ago, a tiny, primitive molecule encoded instructions deep within itself. Then it passed these instructions on to its children, who passed it to their children and so on - all the way down through time to all living things today. The human genome, written in a code of just four letters, tells us who we really are - and that generates many questions! Is this process of natural selection coming to an end? Should we choose the best that is in us for our children? If so,... -
Genetics Part 5: Human Genetic Disorders
If you would like to interact with this video and have access to auxiliary materials follow this link (http://curious.com/craigsavage/human-genetic-disorders) - A sample of human genetic disorders -
5 Real Strange Genetic Mutations!
Genetic mutations are inevitable. Although rare they will always exist. Some can be very disabling, others can be straight from the comic books. In this list we'll be showing you 5 real genetic mutations. We would like to give a big shout out to viewer The All Mighty Jetfire for suggesting this video. ------------------------------------------------------- Find Us On Twitter: https://twitter.com/OfficialAll5 Our Website: http://www.All5.me Music: "Unwritten Return" Kevin MacLeod (incompetech.com) Licensed under Creative Commons: By Attribution 3.0 http://creativecommons.org/licenses/by/3.0/ ------------------------------------------------------- 5) Can’t Get High Cholesterol This probably doesn't sound all that great but believe me it's a mutation that millions of people in the... -
Chapter 24 - Genetics and Genetic Disease
The Human Body in Health & Disease, Thibodeau. Chapter 24 Vodcast MCO 150: Medical Specialties & Pathophysiology Central Maine Community College Taught by: Sarah Varney, RN, BSN, CCRN -
Angelman syndrome : Boy who never stops SMILING with rare genetic disorder
A toddler suffers from a rare genetic condition which means he cannot stop smiling. Ollie Petherick, two, from Devizes, Wiltshire, was born with Angelman syndrome - a chromosome disorder which causes severe learning difficulties -- and puts a permanent smile on his face. Sufferers present a happy demeanour, so are often smiling or laughing, and tend to be easily excited. The condition is so rare that less than 1,000 cases have been reported in the UK. Ollie's mother, Annie Campbell, said: 'Ollie's smile and happy personality just makes everything worthwhile. 'I can be seriously sleep deprived but his smile never fails to cheer me up - he has a knack of really making you feel his excitement and his giggle is just amazing. 'The only thing any parent wants is for their child to be happy, ... -
Genetic Disorders | Parents
A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top doctor about this genetic disorder. Subscribe to the Parents channel: http://po.st/SubscribeToParents About Parents: We’re here to help moms and dads raise happy, healthy kids—and have A LOT of fun along the way. Parents features information about child health, safety, behavior, discipline and education. There are also stories on women's health, nutrition, pregnancy, marriage, and beauty. It is aimed primarily at women ages 18–35 with young children. Follow us today to become the best parent you can be! Official Parents Website: http://po.st/ParentsOnline Follow Parents on FACEBOOK: http://po.st/ParentsOnFacebook Follow Parents on TWITTER: http://po.st/ParentsOnTwitter Follow Parents on PINTEREST...
Libbie's story: Larsen syndrome, a rare genetic disorder
- Order: Reorder
- Duration: 1:59
- Updated: 12 Jun 2014
- views: 6078
Learn more about pediatric orthopedic care from Children's Hospital of Wisconsin: http://bit.ly/1rqpOp5
Libbie came to Children's Hospital of Wisconsin with La...
Learn more about pediatric orthopedic care from Children's Hospital of Wisconsin: http://bit.ly/1rqpOp5
Libbie came to Children's Hospital of Wisconsin with Larsen syndrome, a rare genetic disorder, and it was uncertain whether she would ever be able to walk. See her amazing journey.
Ranked highly by U.S. News & World Report and Parents magazines, Children's has exceptional orthopedic expertise. Our team has specialized training in all areas of orthopedic care, from spine, trauma and fracture care, to sports medicine and concussion care. We treat all orthopedic conditions, from routine to serious.
wn.com/Libbie's Story Larsen Syndrome, A Rare Genetic Disorder
Learn more about pediatric orthopedic care from Children's Hospital of Wisconsin: http://bit.ly/1rqpOp5
Libbie came to Children's Hospital of Wisconsin with Larsen syndrome, a rare genetic disorder, and it was uncertain whether she would ever be able to walk. See her amazing journey.
Ranked highly by U.S. News & World Report and Parents magazines, Children's has exceptional orthopedic expertise. Our team has specialized training in all areas of orthopedic care, from spine, trauma and fracture care, to sports medicine and concussion care. We treat all orthopedic conditions, from routine to serious.
- published: 12 Jun 2014
- views: 6078
Top 10 Rare Diseases and Rare Disorders You Do Not know about
- Order: Reorder
- Duration: 3:27
- Updated: 29 Jan 2015
- views: 112837
rare diseases|rare disorders|rare strange diseases|list of rare diseases|rare genetic diseases
We'll look at the top 10 rare diseases and rare disorders, some o...
rare diseases|rare disorders|rare strange diseases|list of rare diseases|rare genetic diseases
We'll look at the top 10 rare diseases and rare disorders, some of which you may never have heard of and rare diseases others which you hope you never will again.
Top 10 Rarest Diseases in the World...rare diseases is the infrequency of their occurrence in the human population. Often rare diseases lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined rare diseases by the World Health Organization (WHO) as a rare disease
A rare disease, also referred to as an rare disorders, is any disease that affects a small percentage of the population.
A disease or disorder is defined as rare in US when it affects less than 1 in 2000. One rare disease may affect only a handful of patients in the US, and another touch as many as 245,000.
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
Living with a Rare Disease: stories from patients and families
Children face rare diseases with bravery
Centre for Research into Rare Disease in Children
10 rare dieseases Illnesses: Get the Facts
Rare Disease Database National Organization for Rare diseases
10 Rare Diseases You've Probably Never Heard Of
Journal of Rare Disorders: Medical Diagnosis of Rare Diseases
Genetic and Rare Diseases Information The Ultra Rare Diseases,Disorders & Disabilities Foundation
Ten weird rare diseases that will shock you and make you fell better about yourself
10 Extremely Bizarre Medical Disorders and diseases
Developing cure for Rare Diseases & Conditions advice on Rare Diseases
There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.
Research and Sources:
rare diseases|rare disorders|rare strange diseases|list of rare diseases|genetic and rare diseases|rare genetic diseases|rare genetic disorders|list of rare disorders|rare diseases in children|medical anomalies|people with rare diseases
http://en.wikipedia.org/wiki/Rare_disease
Diprosopus|two faced baby
http://en.wikipedia.org/wiki/Diprosopus
Cyclopia|oneyed baby|baby with one eye
http://en.wikipedia.org/wiki/Cyclopia
Craniopagus parasiticus|baby with two heads|two headed baby
http://en.wikipedia.org/wiki/Craniopagus_parasiticus
Fibrodysplasia Ossificans Progressiva|excessive bone growth
http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva
Hutchinson – Gilford Progeria Syndrome|baby with old age
http://en.wikipedia.org/wiki/Progeria
Ectopia Cordis|born with heart outside of the body
http://en.wikipedia.org/wiki/Ectopia_cordis
Proteus Syndrome
http://en.wikipedia.org/wiki/Proteus_syndrome
Lewandowsky-Lutz dysplasia|Tree Man
http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis
Polymelia|multiple limbs|multiple hands|multiple legs
http://en.wikipedia.org/wiki/Polymelia
Do you agree with our list ? Tell in the comments below what you think are the most rare diseases and disorders.
wn.com/Top 10 Rare Diseases And Rare Disorders You Do Not Know About
rare diseases|rare disorders|rare strange diseases|list of rare diseases|rare genetic diseases
We'll look at the top 10 rare diseases and rare disorders, some of which you may never have heard of and rare diseases others which you hope you never will again.
Top 10 Rarest Diseases in the World...rare diseases is the infrequency of their occurrence in the human population. Often rare diseases lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined rare diseases by the World Health Organization (WHO) as a rare disease
A rare disease, also referred to as an rare disorders, is any disease that affects a small percentage of the population.
A disease or disorder is defined as rare in US when it affects less than 1 in 2000. One rare disease may affect only a handful of patients in the US, and another touch as many as 245,000.
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
Living with a Rare Disease: stories from patients and families
Children face rare diseases with bravery
Centre for Research into Rare Disease in Children
10 rare dieseases Illnesses: Get the Facts
Rare Disease Database National Organization for Rare diseases
10 Rare Diseases You've Probably Never Heard Of
Journal of Rare Disorders: Medical Diagnosis of Rare Diseases
Genetic and Rare Diseases Information The Ultra Rare Diseases,Disorders & Disabilities Foundation
Ten weird rare diseases that will shock you and make you fell better about yourself
10 Extremely Bizarre Medical Disorders and diseases
Developing cure for Rare Diseases & Conditions advice on Rare Diseases
There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.
Research and Sources:
rare diseases|rare disorders|rare strange diseases|list of rare diseases|genetic and rare diseases|rare genetic diseases|rare genetic disorders|list of rare disorders|rare diseases in children|medical anomalies|people with rare diseases
http://en.wikipedia.org/wiki/Rare_disease
Diprosopus|two faced baby
http://en.wikipedia.org/wiki/Diprosopus
Cyclopia|oneyed baby|baby with one eye
http://en.wikipedia.org/wiki/Cyclopia
Craniopagus parasiticus|baby with two heads|two headed baby
http://en.wikipedia.org/wiki/Craniopagus_parasiticus
Fibrodysplasia Ossificans Progressiva|excessive bone growth
http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva
Hutchinson – Gilford Progeria Syndrome|baby with old age
http://en.wikipedia.org/wiki/Progeria
Ectopia Cordis|born with heart outside of the body
http://en.wikipedia.org/wiki/Ectopia_cordis
Proteus Syndrome
http://en.wikipedia.org/wiki/Proteus_syndrome
Lewandowsky-Lutz dysplasia|Tree Man
http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis
Polymelia|multiple limbs|multiple hands|multiple legs
http://en.wikipedia.org/wiki/Polymelia
Do you agree with our list ? Tell in the comments below what you think are the most rare diseases and disorders.
- published: 29 Jan 2015
- views: 112837
Dominant and Recessive Genetic Disorders
- Order: Reorder
- Duration: 4:18
- Updated: 29 Jan 2014
- views: 34891
Patient teaching project-- Created using PowToon -- Free sign up at http://www.powtoon.com/ . Make your own animated videos and animated presentations for free...
Patient teaching project-- Created using PowToon -- Free sign up at http://www.powtoon.com/ . Make your own animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume, or anything else you could use an animated explainer video. PowToon's animation templates help you create animated presentations and animated explainer videos from scratch. Anyone can produce awesome animations quickly with PowToon, without the cost or hassle other professional animation services require.
wn.com/Dominant And Recessive Genetic Disorders
Patient teaching project-- Created using PowToon -- Free sign up at http://www.powtoon.com/ . Make your own animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume, or anything else you could use an animated explainer video. PowToon's animation templates help you create animated presentations and animated explainer videos from scratch. Anyone can produce awesome animations quickly with PowToon, without the cost or hassle other professional animation services require.
- published: 29 Jan 2014
- views: 34891
Genetic Disorder Sufferer Defies Critics To Become International Model
- Order: Reorder
- Duration: 5:08
- Updated: 12 Mar 2015
- views: 614856
Genetic Disorder Sufferer Defies Critics To Become International Model
SUBSCRIBE: We upload a new incredible video every weekday. Subscribe to our YouTube chann...
Genetic Disorder Sufferer Defies Critics To Become International Model
SUBSCRIBE: We upload a new incredible video every weekday. Subscribe to our YouTube channel so you don't miss out:
http://bit.ly/Oc61Hj
A MODEL has hit the big time despite suffering from a rare genetic condition that severely affects her appearance. Melanie Gaydos, 26, was born with Ectodermal Dysplasia, a condition that has left her hair, teeth and skin undeveloped. She often draws stares from other models that are not used to her unconventional look while on set. Melanie's modelling career started to take off when she posed for her photographer boyfriend after moving to New York City four years ago.
Videographer / Director: Ruaridh Connellan
Producer: Jack McKay / Nick Johnson
Editor: Ian Phillips / Sonia Estal
For more compelling footage of the amazing side of life:
FACEBOOK: Like Barcroft TV -
https://www.Facebook.com/BarcroftTV
TWITTER: Follow @Barcroft_TV -
https://www.Twitter.com/Barcroft_TV
WEBSITE: For licensing & business enquiries,
visit the Barcroft Media site -
https://www.Barcroftmedia.com
wn.com/Genetic Disorder Sufferer Defies Critics To Become International Model
Genetic Disorder Sufferer Defies Critics To Become International Model
SUBSCRIBE: We upload a new incredible video every weekday. Subscribe to our YouTube channel so you don't miss out:
http://bit.ly/Oc61Hj
A MODEL has hit the big time despite suffering from a rare genetic condition that severely affects her appearance. Melanie Gaydos, 26, was born with Ectodermal Dysplasia, a condition that has left her hair, teeth and skin undeveloped. She often draws stares from other models that are not used to her unconventional look while on set. Melanie's modelling career started to take off when she posed for her photographer boyfriend after moving to New York City four years ago.
Videographer / Director: Ruaridh Connellan
Producer: Jack McKay / Nick Johnson
Editor: Ian Phillips / Sonia Estal
For more compelling footage of the amazing side of life:
FACEBOOK: Like Barcroft TV -
https://www.Facebook.com/BarcroftTV
TWITTER: Follow @Barcroft_TV -
https://www.Twitter.com/Barcroft_TV
WEBSITE: For licensing & business enquiries,
visit the Barcroft Media site -
https://www.Barcroftmedia.com
- published: 12 Mar 2015
- views: 614856
Genetic Disorders And Diseases
- Order: Reorder
- Duration: 9:31
- Updated: 20 Jun 2009
- views: 104936
http://www.facebook.com/ScienceReason ... Code For Life (Chapter 3): Genetic Disorders And Diseases.
---
Please SUBSCRIBE to Science & Reason:
• http://www.you...
http://www.facebook.com/ScienceReason ... Code For Life (Chapter 3): Genetic Disorders And Diseases.
---
Please SUBSCRIBE to Science & Reason:
• http://www.youtube.com/Best0fScience
• http://www.youtube.com/ScienceTV
• http://www.youtube.com/FFreeThinker
---
CODE FOR LIFE:
Beginning more than three and a half billion years ago, a tiny, primitive molecule encoded instructions deep within itself. Then it passed these instructions on to its children, who passed it to their children and so on - all the way down through time to all living things today.
The human genome, written in a code of just four letters, tells us who we really are - and that generates many questions!
Is this process of natural selection coming to an end? Should we choose the best that is in us for our children? If so, who gets to decide what is meant by "the best that is in us"? From amino acids in space to human genes in corn -- this is the story.
1) The Human Genome:
http://www.youtube.com/watch?v=hj_m-1Mzau4
2) The DNA Instruction Manual:
http://www.youtube.com/watch?v=qBfuVuelkoY
3) Genetic Disorders And Diseases:
http://www.youtube.com/watch?v=8s4he3wLgkM
4) Pandora's Box Of Genetics:
http://www.youtube.com/watch?v=tp0qw9gq9hQ
FROM BIG BANG TO MAN:
This is the story of the universe and our place within it. And if that's not enough, we will describe how every atom in existence today came into beeing, how galaxies formed, how our own solar system began. We will trace the progress of life on Earth from its humble beginnings to the emergence of mitochondrial Eve. And from Eve until now, we will follow the progress as humankind spread around the globe.
1. The Baby Universe:
http://www.youtube.com/watch?v=HpFbUI7T6Yk
2. The Present Universe:
http://www.youtube.com/watch?v=XrHMH94Mrk0
3. Origin And Evolution Of Life:
http://www.youtube.com/watch?v=8SgnnV8nV9g
4. The First Humans:
http://www.youtube.com/watch?v=s-nLJI2BZIM
5. Evolution Of Modern Humans:
http://www.youtube.com/watch?v=_KjJ234XPC4
EVOLUTION:
1. Does The Evidence Support Evolution?
http://www.youtube.com/watch?v=p1R8w_QEvEU
2. Vitamin C And Common Ancestry
http://www.youtube.com/watch?v=SF2N2lbb3dk
3. Are We Descended From Viruses?
http://www.youtube.com/watch?v=nIsWZCSMSSs
4. Does The Fossil Record Support Evolution?
http://www.youtube.com/watch?v=QWVoXZPOCGk
5. Where Are The Transitional Forms?
http://www.youtube.com/watch?v=kfTbrHg8KGQ
---
The Cassiopeia Project - making science simple!
The Cassiopeia Project is an effort to make high quality science videos available to everyone. If you can visualize it, then understanding is not far behind.
• http://www.cassiopeiaproject.com
.
wn.com/Genetic Disorders And Diseases
http://www.facebook.com/ScienceReason ... Code For Life (Chapter 3): Genetic Disorders And Diseases.
---
Please SUBSCRIBE to Science & Reason:
• http://www.youtube.com/Best0fScience
• http://www.youtube.com/ScienceTV
• http://www.youtube.com/FFreeThinker
---
CODE FOR LIFE:
Beginning more than three and a half billion years ago, a tiny, primitive molecule encoded instructions deep within itself. Then it passed these instructions on to its children, who passed it to their children and so on - all the way down through time to all living things today.
The human genome, written in a code of just four letters, tells us who we really are - and that generates many questions!
Is this process of natural selection coming to an end? Should we choose the best that is in us for our children? If so, who gets to decide what is meant by "the best that is in us"? From amino acids in space to human genes in corn -- this is the story.
1) The Human Genome:
http://www.youtube.com/watch?v=hj_m-1Mzau4
2) The DNA Instruction Manual:
http://www.youtube.com/watch?v=qBfuVuelkoY
3) Genetic Disorders And Diseases:
http://www.youtube.com/watch?v=8s4he3wLgkM
4) Pandora's Box Of Genetics:
http://www.youtube.com/watch?v=tp0qw9gq9hQ
FROM BIG BANG TO MAN:
This is the story of the universe and our place within it. And if that's not enough, we will describe how every atom in existence today came into beeing, how galaxies formed, how our own solar system began. We will trace the progress of life on Earth from its humble beginnings to the emergence of mitochondrial Eve. And from Eve until now, we will follow the progress as humankind spread around the globe.
1. The Baby Universe:
http://www.youtube.com/watch?v=HpFbUI7T6Yk
2. The Present Universe:
http://www.youtube.com/watch?v=XrHMH94Mrk0
3. Origin And Evolution Of Life:
http://www.youtube.com/watch?v=8SgnnV8nV9g
4. The First Humans:
http://www.youtube.com/watch?v=s-nLJI2BZIM
5. Evolution Of Modern Humans:
http://www.youtube.com/watch?v=_KjJ234XPC4
EVOLUTION:
1. Does The Evidence Support Evolution?
http://www.youtube.com/watch?v=p1R8w_QEvEU
2. Vitamin C And Common Ancestry
http://www.youtube.com/watch?v=SF2N2lbb3dk
3. Are We Descended From Viruses?
http://www.youtube.com/watch?v=nIsWZCSMSSs
4. Does The Fossil Record Support Evolution?
http://www.youtube.com/watch?v=QWVoXZPOCGk
5. Where Are The Transitional Forms?
http://www.youtube.com/watch?v=kfTbrHg8KGQ
---
The Cassiopeia Project - making science simple!
The Cassiopeia Project is an effort to make high quality science videos available to everyone. If you can visualize it, then understanding is not far behind.
• http://www.cassiopeiaproject.com
.
- published: 20 Jun 2009
- views: 104936
Genetics Part 5: Human Genetic Disorders
- Order: Reorder
- Duration: 10:18
- Updated: 23 Mar 2012
- views: 34556
If you would like to interact with this video and have access to auxiliary materials follow this link (http://curious.com/craigsavage/human-genetic-disorders) -...
If you would like to interact with this video and have access to auxiliary materials follow this link (http://curious.com/craigsavage/human-genetic-disorders) - A sample of human genetic disorders
wn.com/Genetics Part 5 Human Genetic Disorders
If you would like to interact with this video and have access to auxiliary materials follow this link (http://curious.com/craigsavage/human-genetic-disorders) - A sample of human genetic disorders
- published: 23 Mar 2012
- views: 34556
5 Real Strange Genetic Mutations!
- Order: Reorder
- Duration: 4:57
- Updated: 09 Oct 2015
- views: 6045
Genetic mutations are inevitable.
Although rare they will always exist.
Some can be very disabling, others can be straight from the comic books.
In this list...
Genetic mutations are inevitable.
Although rare they will always exist.
Some can be very disabling, others can be straight from the comic books.
In this list we'll be showing you 5 real genetic mutations.
We would like to give a big shout out to viewer The All Mighty Jetfire for suggesting this video.
-------------------------------------------------------
Find Us On Twitter: https://twitter.com/OfficialAll5
Our Website: http://www.All5.me
Music:
"Unwritten Return" Kevin MacLeod (incompetech.com)
Licensed under Creative Commons: By Attribution 3.0
http://creativecommons.org/licenses/by/3.0/
-------------------------------------------------------
5) Can’t Get High Cholesterol
This probably doesn't sound all that great but believe me it's a mutation that millions of people in the past & present wished they had.
You see Cholesterol is known as the silent killer because most people with high cholesterol don't even realize they have it, but it causes strokes, heart attacks, heart disease and more.
Heart disease is one of the biggest if not the biggest killer in many countries.
High Cholesterol is to blame, while a small percentage is genetic, most are caused from lifestyle.
Eating fatty foods especially meat, smoking, drinking alcohol and not exercising all increases ones cholesterol.
In fact the chances are unless you're vegan & really look after yourself 30% of 16-24 year olds and 76% of people aged 45 - 54 have high cholesterol.
However there is a really rare genetic mutation only a few have that regardless of their lifestyle they can't get high cholesterol.
This means they can eat junk, smoke, drink, not exercise & never really suffer killer consequences.
These lucky few people lack working copies of a gene known as PCSK9 and scientists have only found a handful of people all African American who have this mutation.
4) Hypertrichosis
Hypertrichosis is also called “werewolf syndrome” and it affects as few as one in a billion people making it extremely rare.
People with this mutation essentially have excessive hair on their face, shoulders and ears.
The reason for this is to do with a rearrangement of chromosome 8.
What happens in basic language is when the dermis sends signals to create hair follicles, most of our body parts ignore the signal and therefore we end up relatively hairless.
However people with this mutation don't ignore it and end up having hair everywhere.
While other than looking odd, there is no downside to this mutation, in fact I can imagine this mutation would be very handy in the winter months.
3) Ectrodactyly
Formerly known as “lobster claw hand, ”individuals with this disorder have a cleft where the middle finger or toe should be.
These split-hand/split-foot malformations are rare limb deformities which can manifest in any number of ways.
It’s also associated with hearing loss. Genetically speaking, it’s caused by several factors, including deletions, trans-locations, and inversions in chromosome 7.
A 2007 ABC article featured Bree Walker, a television anchorwoman living in Los Angeles who lives with the disease.
Thankfully, surgical procedures can correct some of these malformations.
2) Uner Tan Syndrome
Uner Tan syndrome is a somewhat controversial condition, whose most obvious property is that people who suffer from it walk on all fours.
UTS is a syndrome that was proposed by the Turkish evolutionary biologist Üner Tan after studying five members of the Ulaş family in rural Turkey.
These individuals walk on all fours & use primitive speech.
While Tan says this mutation is caused by evolution, some experts believe evolution or genetics may have very little to do with it.
1) Progeria
This genetic disorder is as rare as it is severe affecting about one in eight million live births.
Essentially this horrible disease causes accelerated aging.
Most children who have progeria die of age-related diseases around the age of 13, but some can live into their 20s.
Death is typically caused by a heart attack or stroke.
The disease is caused by a mutation in the LMNA gene, a protein that provides support to the cell nucleus.
Other symptoms of progeria include rigid skin, full body baldness, bone abnormalities, growth impairment, and a characteristic “sculptured” nasal tip.
Thank you for watching and if you enjoyed this video don't forget to Like, Share, Comment & Subscribe for more awesome lists of All Things 5!
Until Next Time... Feed Your Mind!
wn.com/5 Real Strange Genetic Mutations
Genetic mutations are inevitable.
Although rare they will always exist.
Some can be very disabling, others can be straight from the comic books.
In this list we'll be showing you 5 real genetic mutations.
We would like to give a big shout out to viewer The All Mighty Jetfire for suggesting this video.
-------------------------------------------------------
Find Us On Twitter: https://twitter.com/OfficialAll5
Our Website: http://www.All5.me
Music:
"Unwritten Return" Kevin MacLeod (incompetech.com)
Licensed under Creative Commons: By Attribution 3.0
http://creativecommons.org/licenses/by/3.0/
-------------------------------------------------------
5) Can’t Get High Cholesterol
This probably doesn't sound all that great but believe me it's a mutation that millions of people in the past & present wished they had.
You see Cholesterol is known as the silent killer because most people with high cholesterol don't even realize they have it, but it causes strokes, heart attacks, heart disease and more.
Heart disease is one of the biggest if not the biggest killer in many countries.
High Cholesterol is to blame, while a small percentage is genetic, most are caused from lifestyle.
Eating fatty foods especially meat, smoking, drinking alcohol and not exercising all increases ones cholesterol.
In fact the chances are unless you're vegan & really look after yourself 30% of 16-24 year olds and 76% of people aged 45 - 54 have high cholesterol.
However there is a really rare genetic mutation only a few have that regardless of their lifestyle they can't get high cholesterol.
This means they can eat junk, smoke, drink, not exercise & never really suffer killer consequences.
These lucky few people lack working copies of a gene known as PCSK9 and scientists have only found a handful of people all African American who have this mutation.
4) Hypertrichosis
Hypertrichosis is also called “werewolf syndrome” and it affects as few as one in a billion people making it extremely rare.
People with this mutation essentially have excessive hair on their face, shoulders and ears.
The reason for this is to do with a rearrangement of chromosome 8.
What happens in basic language is when the dermis sends signals to create hair follicles, most of our body parts ignore the signal and therefore we end up relatively hairless.
However people with this mutation don't ignore it and end up having hair everywhere.
While other than looking odd, there is no downside to this mutation, in fact I can imagine this mutation would be very handy in the winter months.
3) Ectrodactyly
Formerly known as “lobster claw hand, ”individuals with this disorder have a cleft where the middle finger or toe should be.
These split-hand/split-foot malformations are rare limb deformities which can manifest in any number of ways.
It’s also associated with hearing loss. Genetically speaking, it’s caused by several factors, including deletions, trans-locations, and inversions in chromosome 7.
A 2007 ABC article featured Bree Walker, a television anchorwoman living in Los Angeles who lives with the disease.
Thankfully, surgical procedures can correct some of these malformations.
2) Uner Tan Syndrome
Uner Tan syndrome is a somewhat controversial condition, whose most obvious property is that people who suffer from it walk on all fours.
UTS is a syndrome that was proposed by the Turkish evolutionary biologist Üner Tan after studying five members of the Ulaş family in rural Turkey.
These individuals walk on all fours & use primitive speech.
While Tan says this mutation is caused by evolution, some experts believe evolution or genetics may have very little to do with it.
1) Progeria
This genetic disorder is as rare as it is severe affecting about one in eight million live births.
Essentially this horrible disease causes accelerated aging.
Most children who have progeria die of age-related diseases around the age of 13, but some can live into their 20s.
Death is typically caused by a heart attack or stroke.
The disease is caused by a mutation in the LMNA gene, a protein that provides support to the cell nucleus.
Other symptoms of progeria include rigid skin, full body baldness, bone abnormalities, growth impairment, and a characteristic “sculptured” nasal tip.
Thank you for watching and if you enjoyed this video don't forget to Like, Share, Comment & Subscribe for more awesome lists of All Things 5!
Until Next Time... Feed Your Mind!
- published: 09 Oct 2015
- views: 6045
Chapter 24 - Genetics and Genetic Disease
- Order: Reorder
- Duration: 19:35
- Updated: 30 Jul 2012
- views: 6366
The Human Body in Health & Disease, Thibodeau.
Chapter 24 Vodcast
MCO 150: Medical Specialties & Pathophysiology
Central Maine Community College
Taught by: Sara...
The Human Body in Health & Disease, Thibodeau.
Chapter 24 Vodcast
MCO 150: Medical Specialties & Pathophysiology
Central Maine Community College
Taught by: Sarah Varney, RN, BSN, CCRN
wn.com/Chapter 24 Genetics And Genetic Disease
The Human Body in Health & Disease, Thibodeau.
Chapter 24 Vodcast
MCO 150: Medical Specialties & Pathophysiology
Central Maine Community College
Taught by: Sarah Varney, RN, BSN, CCRN
- published: 30 Jul 2012
- views: 6366
Angelman syndrome : Boy who never stops SMILING with rare genetic disorder
- Order: Reorder
- Duration: 3:44
- Updated: 04 Sep 2013
- views: 56201
A toddler suffers from a rare genetic condition which means he cannot stop smiling.
Ollie Petherick, two, from Devizes, Wiltshire, was born with Angelman syndro...
A toddler suffers from a rare genetic condition which means he cannot stop smiling.
Ollie Petherick, two, from Devizes, Wiltshire, was born with Angelman syndrome - a chromosome disorder which causes severe learning difficulties -- and puts a permanent smile on his face.
Sufferers present a happy demeanour, so are often smiling or laughing, and tend to be easily excited.
The condition is so rare that less than 1,000 cases have been reported in the UK.
Ollie's mother, Annie Campbell, said: 'Ollie's smile and happy personality just makes everything worthwhile.
'I can be seriously sleep deprived but his smile never fails to cheer me up - he has a knack of really making you feel his excitement and his giggle is just amazing.
'The only thing any parent wants is for their child to be happy, and I know that with Ollie, I will always have that.'
Ms Campbell, 24, often receives compliments about her little boy's beaming smile.
She said: 'We get a lot of comments about his smile when we're out which his lovely - it really does make you happy when you see his grin.
'He was a very relaxed and placid baby too - he'd always babble away to himself without a care in the world.'
Ms Campbell, who is now a full time carer for her son, only discovered Ollie's condition when she noticed he couldn't focus on things properly.
She said: 'Ollie was six-months-old when I started to notice that his development was delayed - his older brother was much more advanced at his age.
'Then, one evening, I spent hours trying to get him to follow my finger with his eyes, and he just couldn't do it.
'I really started to worry, so the next morning I went to the GP to be on the safe side.
'We were referred to the hospital where they did eye tests, but we were eventually told that Ollie suffered from something neurological, but they weren't quite sure what.'
Ms Campbell was then transferred to a second hospital where her little boy underwent more tests.
Meanwhile, she had come across Angelman syndrome in a magazine, and was convinced it was what her son suffered from.
She said: 'I'd read an article in the magazine and the symptoms they were described were exactly the same as Ollie's.
'I rang his dad straight away and told him that Ollie had Angelman - I was certain of it.
'I just knew that's what he had, and then two days later - six weeks after our first appointment - it was confirmed by the doctors.
'By this point, I'd already convinced myself he had Angelman, so it was a relief to finally get a diagnosis. I just wanted to learn as much as I could about it so I knew how to help Ollie.
'I went online and tried to find out as much as possible. I read that Angelman was to do with a deletion of a chromosome -- it's funny how such a tiny thing like that can affect someone so much.
'I found support groups and other mum's who had children with Angelman too, that's how I got the most help and information.'
Ms Campbell added: 'Ollie won't be able to speak or walk with ease when he grows up which is upsetting.
'I do worry about him in the future - I wonder how I'll know if he is ever upset or sad, when the Angelman makes him so happy all the time.
'But at the moment I just enjoy the lovely little boy that I have.'
Support : http://www.angelmanuk.org/
Blog : http://patrynworldlatestnews.blogspot.com/
Facebook : https://www.facebook.com/patryn.worldlatestnews
wn.com/Angelman Syndrome Boy Who Never Stops Smiling With Rare Genetic Disorder
A toddler suffers from a rare genetic condition which means he cannot stop smiling.
Ollie Petherick, two, from Devizes, Wiltshire, was born with Angelman syndrome - a chromosome disorder which causes severe learning difficulties -- and puts a permanent smile on his face.
Sufferers present a happy demeanour, so are often smiling or laughing, and tend to be easily excited.
The condition is so rare that less than 1,000 cases have been reported in the UK.
Ollie's mother, Annie Campbell, said: 'Ollie's smile and happy personality just makes everything worthwhile.
'I can be seriously sleep deprived but his smile never fails to cheer me up - he has a knack of really making you feel his excitement and his giggle is just amazing.
'The only thing any parent wants is for their child to be happy, and I know that with Ollie, I will always have that.'
Ms Campbell, 24, often receives compliments about her little boy's beaming smile.
She said: 'We get a lot of comments about his smile when we're out which his lovely - it really does make you happy when you see his grin.
'He was a very relaxed and placid baby too - he'd always babble away to himself without a care in the world.'
Ms Campbell, who is now a full time carer for her son, only discovered Ollie's condition when she noticed he couldn't focus on things properly.
She said: 'Ollie was six-months-old when I started to notice that his development was delayed - his older brother was much more advanced at his age.
'Then, one evening, I spent hours trying to get him to follow my finger with his eyes, and he just couldn't do it.
'I really started to worry, so the next morning I went to the GP to be on the safe side.
'We were referred to the hospital where they did eye tests, but we were eventually told that Ollie suffered from something neurological, but they weren't quite sure what.'
Ms Campbell was then transferred to a second hospital where her little boy underwent more tests.
Meanwhile, she had come across Angelman syndrome in a magazine, and was convinced it was what her son suffered from.
She said: 'I'd read an article in the magazine and the symptoms they were described were exactly the same as Ollie's.
'I rang his dad straight away and told him that Ollie had Angelman - I was certain of it.
'I just knew that's what he had, and then two days later - six weeks after our first appointment - it was confirmed by the doctors.
'By this point, I'd already convinced myself he had Angelman, so it was a relief to finally get a diagnosis. I just wanted to learn as much as I could about it so I knew how to help Ollie.
'I went online and tried to find out as much as possible. I read that Angelman was to do with a deletion of a chromosome -- it's funny how such a tiny thing like that can affect someone so much.
'I found support groups and other mum's who had children with Angelman too, that's how I got the most help and information.'
Ms Campbell added: 'Ollie won't be able to speak or walk with ease when he grows up which is upsetting.
'I do worry about him in the future - I wonder how I'll know if he is ever upset or sad, when the Angelman makes him so happy all the time.
'But at the moment I just enjoy the lovely little boy that I have.'
Support : http://www.angelmanuk.org/
Blog : http://patrynworldlatestnews.blogspot.com/
Facebook : https://www.facebook.com/patryn.worldlatestnews
- published: 04 Sep 2013
- views: 56201
Genetic Disorders | Parents
- Order: Reorder
- Duration: 4:52
- Updated: 12 Mar 2010
- views: 38143
A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top doctor about this genetic disorder.
Subscribe to the Parents channel...
A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top doctor about this genetic disorder.
Subscribe to the Parents channel: http://po.st/SubscribeToParents
About Parents: We’re here to help moms and dads raise happy, healthy kids—and have A LOT of fun along the way. Parents features information about child health, safety, behavior, discipline and education. There are also stories on women's health, nutrition, pregnancy, marriage, and beauty. It is aimed primarily at women ages 18–35 with young children.
Follow us today to become the best parent you can be!
Official Parents Website: http://po.st/ParentsOnline
Follow Parents on FACEBOOK: http://po.st/ParentsOnFacebook
Follow Parents on TWITTER: http://po.st/ParentsOnTwitter
Follow Parents on PINTEREST: http://po.st/ParentsOnPinterest
Follow Parents on INSTAGRAM: http://po.st/ParentsOnInstagram
wn.com/Genetic Disorders | Parents
A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top doctor about this genetic disorder.
Subscribe to the Parents channel: http://po.st/SubscribeToParents
About Parents: We’re here to help moms and dads raise happy, healthy kids—and have A LOT of fun along the way. Parents features information about child health, safety, behavior, discipline and education. There are also stories on women's health, nutrition, pregnancy, marriage, and beauty. It is aimed primarily at women ages 18–35 with young children.
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- published: 12 Mar 2010
- views: 38143
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1:59
Libbie's story: Larsen syndrome, a rare genetic disorder
Learn more about pediatric orthopedic care from Children's Hospital of Wisconsin: http://b...
published: 12 Jun 2014
Libbie's story: Larsen syndrome, a rare genetic disorder
Libbie's story: Larsen syndrome, a rare genetic disorder
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- published: 12 Jun 2014
- views: 6078
3:27
Top 10 Rare Diseases and Rare Disorders You Do Not know about
rare diseases|rare disorders|rare strange diseases|list of rare diseases|rare genetic dise...
published: 29 Jan 2015
Top 10 Rare Diseases and Rare Disorders You Do Not know about
Top 10 Rare Diseases and Rare Disorders You Do Not know about
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- published: 29 Jan 2015
- views: 112837
4:18
Dominant and Recessive Genetic Disorders
Patient teaching project-- Created using PowToon -- Free sign up at http://www.powtoon.com...
published: 29 Jan 2014
Dominant and Recessive Genetic Disorders
Dominant and Recessive Genetic Disorders
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- published: 29 Jan 2014
- views: 34891
5:08
Genetic Disorder Sufferer Defies Critics To Become International Model
Genetic Disorder Sufferer Defies Critics To Become International Model
SUBSCRIBE: We uploa...
published: 12 Mar 2015
Genetic Disorder Sufferer Defies Critics To Become International Model
Genetic Disorder Sufferer Defies Critics To Become International Model
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- published: 12 Mar 2015
- views: 614856
9:31
Genetic Disorders And Diseases
http://www.facebook.com/ScienceReason ... Code For Life (Chapter 3): Genetic Disorders And...
published: 20 Jun 2009
Genetic Disorders And Diseases
Genetic Disorders And Diseases
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- published: 20 Jun 2009
- views: 104936
10:18
Genetics Part 5: Human Genetic Disorders
If you would like to interact with this video and have access to auxiliary materials follo...
published: 23 Mar 2012
Genetics Part 5: Human Genetic Disorders
Genetics Part 5: Human Genetic Disorders
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- published: 23 Mar 2012
- views: 34556
4:57
5 Real Strange Genetic Mutations!
Genetic mutations are inevitable.
Although rare they will always exist.
Some can be very...
published: 09 Oct 2015
5 Real Strange Genetic Mutations!
5 Real Strange Genetic Mutations!
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- published: 09 Oct 2015
- views: 6045
19:35
Chapter 24 - Genetics and Genetic Disease
The Human Body in Health & Disease, Thibodeau.
Chapter 24 Vodcast
MCO 150: Medical Special...
published: 30 Jul 2012
Chapter 24 - Genetics and Genetic Disease
Chapter 24 - Genetics and Genetic Disease
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- published: 30 Jul 2012
- views: 6366
3:44
Angelman syndrome : Boy who never stops SMILING with rare genetic disorder
A toddler suffers from a rare genetic condition which means he cannot stop smiling.
Ollie ...
published: 04 Sep 2013
Angelman syndrome : Boy who never stops SMILING with rare genetic disorder
Angelman syndrome : Boy who never stops SMILING with rare genetic disorder
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- published: 04 Sep 2013
- views: 56201
4:52
Genetic Disorders | Parents
A mom shares her story of having a daughter with Turner's Syndrome. We also talk to a top...
published: 12 Mar 2010
Genetic Disorders | Parents
Genetic Disorders | Parents
- Report rights infringement
- published: 12 Mar 2010
- views: 38143
Libbie's story: Larsen syndrome, a rare genetic di...
Top 10 Rare Diseases and Rare Disorders You Do Not...
Dominant and Recessive Genetic Disorders...
Genetic Disorder Sufferer Defies Critics To Become...
Genetic Disorders And Diseases...
Genetics Part 5: Human Genetic Disorders...
5 Real Strange Genetic Mutations!...
Chapter 24 - Genetics and Genetic Disease...
Angelman syndrome : Boy who never stops SMILING wi...
Genetic Disorders | Parents...
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Lyrics list:lyrics
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Genetic Disorder
Genetic Disorder
Explain to me the real sense of so many dirty lies
The agony of innocence
It reveals a bloody rite, the plunder of their eyes
The mutitalions of their bodies for their parts
Now and then their pain is real
Do you know what they feel?
How can you still live in peace
(When) you hear them crying?
Marching through the window of eternal night
They'll never see the sun
Blinded by the street light
They're always on the run
And they can't stay alive... without guns
I walk alone in the void
No one can understand me
Nobody sees that I'm destroyed
I have lost my liberty
There's no future I can see
I will have no haven, no sanctuary
Now and then their pain is real
Do you know what they feel?
How can you still live in peace
(When) you hear them crying?
Marching through the window of eternal night
They'll never see the sun
Blinded by the street light
They're always on the run
And they can't stay alive...
photo: NASA / JPL-Caltech/MSSS
NASA Curiosity rover discovers unexpected mineral on Mars
Edit Deccan Chronicle 26 Jun 2016
NASA's Curiosity rover has discovered an unexpected mineral in a rock sample on Mars, a finding that suggests the red planet hosted explosive volcanoes during its evolution. The Mars Science Laboratory rover, Curiosity, has been exploring sedimentary rocks within Gale Crater since landing in August 2012 ... ‘On Earth, tridymite is formed at high temperatures in an explosive process called silicic volcanism ... ....
photo: AP / Lefteris Pitarakis
Kenyan, 94, testifies about killings by British soldiers
Edit The Guardian 26 Jun 2016
Court in central London hears witness recall being beaten and seeing companions shot dead during Mau Mau insurgency. @owenbowcott. Nelson Njao Munyaka witnessed two companions being shot dead by British soldiers; he carried their corpses to a white settler’s farm in Kenya’s Rift Valley. Both victims had taken the Mau Mau oath and been trying to escape ... Related. UK to compensate Kenya's Mau Mau torture victims ... Twitter ... ....
photo: AP / Tim Ireland
Can wounds ever heal in divided UK?
Edit CNN 26 Jun 2016
(CNN)The referendum vote to quit the European Union has left the United Kingdom a more divided society than ever before. In fifty years reporting politics I have never encountered such shock and anger. the morning the result was announced my phone was red hot, mostly with younger friends convinced the older generation had, through indulging their prejudices, sold them down the river ... It's Brexit ... by Donald Trump. Read More ... future ... ....
photo: AP / Hadi Mizban
Iraqi commander: Fallujah 'fully liberated' from IS
Edit Boston Herald 26 Jun 2016
BAGHDAD — A senior Iraqi commander declared that the city of Fallujah was "fully liberated" from Islamic State group militants on Sunday, after a more than monthlong military operation. Iraqi troops have entered the northwestern al-Julan neighborhood, the last area of Fallujah to remain under IS control, the head of the counterterrorism forces in the operation, Lt. Gen. Abdul-Wahab al-Saadi, told The Associated Press ... figures ... ___ ... ....
photo: UN / Eskinder Debebe
Yemen clashes intensify as Ban Ki-moon pushes peace in Kuwait
Edit The National 26 Jun 2016
Aden // Fighting between Yemeni government forces and Houthi rebels killed 41 people on several fronts on Sunday, as UN chief Ban Ki-moon urged the rival factions to accept a peace plan. UN sponsored talks between the Iran-backed Houthi rebels and the internationally recognised government of President Abdrabu Mansur Hadi have failed to achieve a breakthrough since starting in Kuwait on April 21 ... *Agence France-Presse ....
« back to news headlines
Say no to marriage between relatives
Edit Khaleej Times 26 Jun 2016
"Consanguineous parents also have the risk of having a baby with genetic disorders ... It is a simple blood test that is carried out when planning a family to prevent the risk of having a baby with genetic disorders ... Generally, parents only realise they are carriers of serious genetic disorders after an affected child is born. But genetic disorders can be prevented....
Coraopolis teen left in limbo by FDA inaction on muscular dystrophy treatment
Edit Pittsburgh Tribune Review 26 Jun 2016
By now, Billy Ellsworth shouldn’t be walking, but he is. The 15-year-old Coraopolis boy has Duchenne muscular dystrophy, a rare genetic disorder that starves muscles ... ....
Color Blind Brothers Hug And Cry As They See Color For The First Time [Video]
Edit Inquisitr 25 Jun 2016
A really sweet video of two color blind brothers embracing as they see the world in full technicolor for the first time is going viral today. The Papenhausen brothers, Jace and James from San Diego, CA, were both born with red/green color blindness, a genetic disorder which makes it impossible for the sufferer to distinguish between the two ... Colorblind brothers are moved to tears after seeing color for the first time ever ... Dr....
Father furious as medics remove all of daughter's bottom teeth in operation
Edit Belfast Telegraph 24 Jun 2016
The father of a young woman with severe learning difficulties has spoken of his shock after she had 14 teeth removed in a single operation ... Share Go To ... The disorder causes multiple problems including seizures, low muscle tone, a low weight of between five and six stone and issues with communication ... "It's shocking" he said ... Related Content ... Belfast father's plea to health service for young woman with genetic disorder ....
Six-Inch Alien Spotted In NASA’s Mars Curiosity Rover Photo Proves ‘Atacama Skeleton’ Was Extraterrestrial Visitor, ...
Edit Inquisitr 24 Jun 2016
Other experts suggested it was a human person who suffered a rare genetic disorder linked with extreme dwarfism ... Although subsequent DNA analysis suggested it was a human being with rare genetic mutations, members of the alien and UFO conspiracy theory community claimed that the Atacama Alien was an extraterrestrial being and that the discovery proves the existence of miniature humanoid extraterrestrial beings ... The Inquisitr News ....
Anavex to Present at the 2016 Rett Syndrome Symposium
Edit Stockhouse 23 Jun 2016
Rett syndrome is a rare non-inherited genetic postnatal progressive neurodevelopmental disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life ... A rare yet devastating condition, infantile spasms is a seizure disorder that typically occurs during the first 4-11 months of ......
All about the base
Edit The Economist 23 Jun 2016
In time this sort of method will extend to other genetic disorders and other medical applications ... Using blood tests to detect genetic changes in tumours could allow doctors to discover more quickly when drugs are no longer effective....
Genome Magazine Kicks Off “Code Talkers” National Essay Contest to Honor Genetic Counselors, Sponsored by Invitae
Edit Stockhouse 23 Jun 2016
Genome Magazine Kicks Off “Code Talkers” National Essay Contest to Honor Genetic Counselors, Sponsored by Invitae. -- Clinicians, patients and families invited to submit essays recognizing the impact of genetic counselors -- ... The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas....
Genome Magazine Kicks Off “Code Talkers” National Essay Contest to Honor Genetic Counselors, Sponsored by Invitae (Invitae Corporation)
Edit Public Technologies 23 Jun 2016
Clinicians, patients and families invited to submit essays recognizing the impact of genetic counselors. Finalists to be featured in a book and honored at National Society of Genetic Counselors (NSGC) Annual Education Conference ... The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas....
The Medical Minute: Disease causes tumors to form on nerve tissue (Penn State Milton S Hershey Medical Center)
Edit Public Technologies 23 Jun 2016
(Source. Penn State Milton S Hershey Medical Center). Although neurofibromatosis (NF) is not commonly discussed, it affects more than 2 million people worldwide. 'Neurofibromatosis is a group of genetic disorders that predispose people to various kinds of tumors,' said Dr. Kimberly Harbaugh, chief of peripheral nerve surgery at Penn State Health Milton S. Hershey Medical Center ... 'You're really only treating the symptoms of the disorder.'....
LETTERS: Pains of democracy
Edit The Himalayan 23 Jun 2016
This has reference to “Freedom of speech. The discomforts of democracy” (THT, June 22, Page 8). Quoting US President Obama, US Ambassador to Nepal Alaina B. Teplitz writes, “We have to uphold a free press and freedom of speech. Because, in the end, lies and misinformation are no match for the truth” ... No need for them to get uptight ... Colour blind ... Though I knew it was genetic disorder and had no cure, I was eager to know who had such gene ... ....
Families denied insurance from ESIC for rare genetic disorders, seek refuge in court
Edit DNA India 22 Jun 2016
Utransh Vyas, a wide-eyed 18-month-old boy, shows no signs of the genetic disease he was diagnosed with three months ago; Gaucher’s disease, a rare genetic disorder that often causes the stomach to protrude, liver and spleen to swell and sometimes severe bone pain ... called Lysosomal Storage Disorders, till the final judgement in passed....
"Digital neurotherapeutic" in development at the UC Davis MIND Institute (UC Davis Health System)
Edit Public Technologies 22 Jun 2016
A UC Davis researcher has created a video game for children who experience cognitive impairments from genetic disorders with the hope that that it will improve their ability to mentally process information about space and time ... Simon's work on the video game originated from research into certain genetic disorders that produce cognitive impairments as well as behavioral disturbances....
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