Hi Reddit,

My name is Joel Frohlich and I am a neuroscience PhD student at the University of California, Los Angeles (UCLA) in the lab of Dr. Shafali Jeste. My research uses “brain waves” or neural oscillations to identify quantitative, biological markers (biomarkers) of autism and neurodevelopmental disorders. These biomarkers can be used to guide treatment or inform outcomes in patients. Our lab places electrodes on the scalp to measure neural oscillations in children, a technique known as EEG.

My name is Charlotte DiStefano and I am a postdoctoral fellow and clinical instructor at UCLA. My research focuses on cognitive and language development in children with neurodevelopment disorders, including autism spectrum disorder and related neurogenetic disorders.

We recently published a paper titled “A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome” in PLOS ONE. Dup15q syndrome is a neurogenetic disorder caused by partial duplications of chromosome 15. It is one of the most common genetic duplications that causes autism spectrum disorder, and it also confers high risk for epilepsy (i.e., seizures) and intellectual disability (ID). We used EEG to measure a particular frequency of neural oscillation called beta in children with Dup15q syndrome and found that beta oscillations distinguish children with the disorder from other children with autism and ID, as well as healthy children. Remarkably, this EEG signature looks just like the EEG signature seen when a person takes benzodiazepine drugs that bind to and modulate inhibitory neurotransmitter receptors called GABA_A receptors. Because several genes that encode these receptors are duplicated in Dup15q syndrome, we think that this EEG signature might be indicative of GABA_A receptor subunit expression. For this reason, the EEG signature we've identified might be useful for guiding clinical trials that target these neurotransmitter receptors.

My colleagues and I will be answering your questions at 1pm EST (10am PST). We're looking forward to discussing our work with these awesome kids. Ask Us Anything!

Don’t forget to follow Joel Frohlich on Twitter @joel_frohlich.

Our bodies are inhabited by literally billions of microbes, with thousands of distinct species of bacteria, viruses, fungi and others that are referred to collectively as the microbiota. The most populous microbiota resides in our large intestine, but there are also significant microbiota in the airways, in the mouth, on the skin and in the female reproductive tract. Under normal circumstances, these microbes are harmless, and even considered beneficial to their host. They perform metabolic functions, educate the immune system, and protect us from infections with “bad” bacteria. Recent work, however, has suggested that when the composition of the microbiota is altered in specific ways, then the health of the site they colonize may be compromised.

For example, patients with inflammatory bowel diseases such as Crohn’s disease and ulcerative colitis have a less diverse microbiota in their gut than healthy individuals. There is also increasing attention being paid to the ways in which other microbiota can influence the health of the sites in which they reside, and conversely, how the gut microbiota can influence the health of organs outside the digestive tract, including the brain. We are also learning how environmental factors, such as the diet and early-life use of antibiotics, can influence the make-up of the microbiota in either the short or long term and thus influence health status.

I’m eager to answer questions about any of these issues, and can also address how dangerous (pathogenic) food- and water-borne microorganisms, such as Salmonella and the bacteria that cause cholera, interact with the intestine to cause diarrheal disease. I’m also happy to answer general questions about biomedical publishing, including publication ethics and how new investigators can increase their chances that their papers will be accepted.

I will be back to answer your questions at 11:30 am ET, ask me anything!

On-line now and ready to start answering your questions! I'll get to as many as I can in the next two hours.

1.36pm ET: Wow - this was such an interesting experience but I am afraid I have run out of time and just can't get to all of these great questions. Thanks to everyone who participated by both asking and answering questions in this thread!

4.15pm ET: had a chance in my lunch break to add a few more comments.....thanks again to all and apologies to those whose questions I could not answer.