Special thanks to retreat speakers: , , Florian Eichler, , Beth Karlson and Rachel Viscomi, and all the posters and lightning talks (highlight of the day!!). Also grateful to and the team for their partnership and insights.
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Many thanks to the entire CGM community and amazing organizers , Alysa Doyle, and Piper McCabe for a fantastic day of science, activities, and social interactions at our annual retreat!
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Two groundbreaking projects from and trainees from ’s lab and Sneha Rath from ’s lab awarded the prestigious Charles A. King Trust 2022 fellowships. Congratulations to Christiano and Sneha!!
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The CGM proudly supports all of our Genetic Counselors today on #GeneticCounsellorAwarenessDay!!
The day is dedicated to raising awareness and interest about GCs and helping the public understand the critical role that they play in healthcare #GCAD2022
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First of its kind genetic mitochondrial uncoupling disease described by and investigator published in , learn more here:
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Congratulations to @MGH_CGM new faculty for receiving the Anne Klibanski Award for Excellence in Mentoring. Our trainees are lucky to have you!
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.@pnatarajanmd, of @MGHHeartHealth, received the Anne Klibanski Award for Excellence in Mentoring. Named after Anne Klibanski, President & CEO of @MassGenBrigham, who has mentored hundreds of faculty members. This award is presented to an exceptional @MGHMedicine research mentor.
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See research paper and stories from and here:
genomeweb.com/gene-silencing
genengnews.com/news/precise-d
massgeneral.org/news/press-rel
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Exciting new study in on next-generation genome editing technology led by @MGH_CGM investigator : Precise DNA cleavage using CRISPR-SpRYgests"
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1/1 "SpRYgest, takes the die out of digest" - @RachelSilvers11
We recently repurposed our PAMless Cas9 enzyme SpRY for in vitro DNA digests (so-called “SpRYgests”), as a substitute to overcome the limitations of restriction enzymes . A 
:
biorxiv.org/content/10.110
:
biorxiv.org/content/10.110Show this thread
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Check out new paper in from @MGH_CGM associate director, and his lab.
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Our lab's work is now out in @AgingCell doi.org/10.1111/acel.1 by first author Armen Yerevanian, MD, showing that vitamins have complicated roles in aging: riboflavin depletion in adult life promotes longevity and metabolic hormesis!
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Congrats to @MGH_CGM faculty members, Florian Eichler and , and their team on the FDA approval of gene therapy for early active cerebral ALD
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Congrats to faculty member, , whose lab was awarded an New Innovator (DP2) Award, enabling his lab to continue their work on genome editing technology development!
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Very humbled (and lucky!) to receive an @NIH_CommonFund @NIHDirector DP2 award. 
time was the charm. Grateful for this recognition that will allow my amazing lab members to continue pursuing their super interesting science. #CRISPR @CGM_MGH @MGHPathology @MassGeneralNews twitter.com/NIH_CommonFund…
time was the charm. Grateful for this recognition that will allow my amazing lab members to continue pursuing their super interesting science. #CRISPR @CGM_MGH @MGHPathology @MassGeneralNews twitter.com/NIH_CommonFund…Show this thread
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Richa Saxena, PhD, from , looks at the #genetics of circadian rhythms and sleep in human health and disease.
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Genetics of circadian rhythms and sleep in human health and disease go.nature.com/3Rf8ktG #Review by @jlane_boston, @JQianClock, @EmmanuelMignot8, @SusanRedline, Frank A. J. L. Scheer & Richa Saxena
@BrighamResearch @HarvardSleepMed @harvardmed @broadinstitute @Stanford
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Check out exciting work on neuropsychiatric symptoms in patients previously hospitalized for COVID-19 from researchers and PI's and
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Researchers from @MGHPsychiatry and colleagues find brain-related symptoms were common in people previously hospitalized for COVID-19 and other issues, in a @molpsychiatry study. pubmed.ncbi.nlm.nih.gov/35705635/
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Delighted to collaborate with & team to systematically compare proteomic platforms across individuals of African ancestry science.org/doi/10.1126/sc
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New review from and colleagues explores phenotypic and genetic strategies to classify #diabetes into subtypes, allowing for #PrecisionMedicine approaches to predict outcomes and select therapies. bit.ly/3pwU2ZQ 🔓
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See the paper, Research Briefing, and stories from and here:
nature.com/articles/s4158
twitter.com/NatureGenet/st
broadinstitute.org/news/large-ana
spectrumnews.org/news/scans-of-
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And don't miss the associated Research Briefing!
Diverse mutations in autism-related genes and their expression in the developing brain
go.nature.com/3PxjIQC
Diverse mutations in autism-related genes and their expression in the developing brain
go.nature.com/3PxjIQCShow this thread
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Expansive new gene discovery and functional characterization studies in autism out in , co-led by PI team including labs and .
Congrats lead authors , , H. Brand, M. Peng ( lab) on the monumental efforts!!
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OUT TODAY @NatureGenet
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
@JFuBiostats @Sirt3 @dalygene @TalkowskiLab and team
go.nature.com/3pyHG32Show this thread
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Our paper on rare variant associations in the UK Biobank is out in Cell Genomics today! cell.com/cell-genomics/
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Congratulations on recent publication released by Faculty and Members and others!
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Congratulations to trainee and PhD student on his successful PhD defense from BIG program. 🎓🧪📚
What an amazing defense, and very cool word cloud of >1300 co-authors/collaborators as a technician and then PhD student. Wow!!
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Check out recent publication by Scientific Director and faculty member, , and colleagues: Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia
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Researchers from @CGM_MGH @MGHNeurology and colleagues investigate correcting a splicing defect in familial dysautonomia, in a @hmg_journal study. pubmed.ncbi.nlm.nih.gov/34908112/
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Congratulations to faculty member, , on receiving 's #ClinicalScientistDevelopmentAward for her project: Drug Discovery for Type 2 Diabetes Using Genetic Pathways
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Join us in congratulating the 2022 recipients of #ClinicalScientistDevelopmentAwards! We look forward to following the important contributions of these #physicianscientists to #clinicalresearch. Learn more about the awardees and their exciting projects: bit.ly/3BNLIvV
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Join for their annual conference on November 2nd and 3rd, among the speakers is faculty member, !
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Visit mghcme.org/precision2022/ for more details and to register!
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Congrats to Annie Kathuria, PhD, from on receiving the 2022 Samuel Gershon Junior Investigator Award from the !
Read more: mgriblog.org/2022/08/03/mas #bipolarresearch #bipolardisorder #mentalhealth
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Fond farewell to our outstanding SRTP fellows: Bre Wright, Iheanyi Amadi & Cristina Fernadez-Hernandez!
It was an honor to host you and engage in your training!! Also huge thanks to our faculty mentors and labs, and !
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Check out investigator Jose Florez, instructor , and colleagues publication on Polygenic scores, diet quality, and type 2 diabetes risk pubmed.ncbi.nlm.nih.gov/35472203/
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Researchers from @CGM_MGH and colleagues find genetic susceptibility and diet quality are independent risk factors for diabetes, in a @PLOSBiology study. pubmed.ncbi.nlm.nih.gov/35472203/
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New analysis published in Cell from Director of almost 1M genomes finds hundreds of dosage sensitive genomic segments intolerant to deletion and duplication across human diseases. See 🧵here from PhD student
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Final version of our dosage sensitivity study out today @CellCellPress!
cell.com/cell/fulltext/
Explored CNV associations across 54 phenotypes in ~1M genomes
Since @medrxivpreprint in 2021: added 200k samples & 22 phenotypes thanks to @GeneDx @ESTbiobank @vumcdbmi
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New @CO90s research project approved: Sensitive periods for the effects of #depression on #suiciderisk Alexandre A Lussier @CGM_MGH bit.ly/ProjectB4101
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Check out summer student, Iris Farnum, take over the instagram page today
instagram.com/massgeneral_ri
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Mark your calendars 
!
Iris Farnum, a summer student intern in the @CGM_MGH, is taking control of the #MGRI Instagram page tomorrow.
Follow along at instagram.com/massgeneral_ri
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Iris Farnum, a summer student intern in the @CGM_MGH, is taking control of the #MGRI Instagram page tomorrow.
Follow along at instagram.com/massgeneral_ri
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Important findings from the lab of faculty on developmental variability in a study of over 17,000 autistic children. First author provides a nice 🧵 here explaining the results in .
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Early development varies enormously in autistic individuals. We clearly have much to learn about the diverse needs of the autistic community in early life, and much to learn about how to better adapt our environments to fit those needs. (1/6)
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Interesting new preprint on rare variants from and colleagues from the UK Biobank
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Exome-seq has catalyzed rare variant (RV) discovery.
But unknown:
RVs converge w/ common variants?
As polygenic+pleiotropic?
Improve population PRS+"missing heritability"?
New method + answers to these q's, leveraging 400,000 UKB exomes:
medrxiv.org/content/10.110
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Congratulations to faculty member on winning the highly prestigious Curt Stern award from . Heidi is a unique leader in our field and has championed the advancement of genomic medicine for researchers, healthcare providers, and patients alike!
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Professor of Medicine, Chief of Endocrinology and investigator, Jose Florez, discusses how his faith and spirituality play into his work.
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investigator and Director for the Center for Neuroscience of Psychedelics, , featured in the resurgence of psychedelics at MGH/Harvard
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📢Scientific administrative leaders, we are seeking a new Admin Director! The AD will oversee a dynamic academic research Center in partnership with the CGM Director, admin team, faculty, and scientists across the genomics community. 👀below. Application review is ongoing!
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led an international study with IBMC, and 100s to study developmental disorder cases with unique structural mutations. The study revealed novel changes to genes and 3D genome regulatory architecture that influence disease risk.
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More preprints from our faculty. Two from Director and our PhD students and postdoctoral trainees.
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