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Autism genes that are seen in everyone

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This was a very genetics-centric week because of two exciting new publications that focused on genetic risk factors.  In the first, Dr. William Brandler at UCSD demonstrates that mutations in autism risk genes come in all sorts of different forms, but they must be in the right genes to lead to a diagnosis.  Just having different mutations is not enough. Also,  in an intriguing analysis led by Dr. Elise Robinson at the Broad Institute (and also summarized on SpectrumNews), she looked at these autism risk genes in people without autism and found that we all have them.  Reiterating what Dr. Brandler found, she showed that the spectrum of autism genetics may be broader than the spectrum of an autism diagnosis.  It may explain symptoms of autism without a diagnosis in family members as well.

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Regression in autism, down to the neuron

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On Friday, February 19, the NIH organized a workshop on regression in autism.  It included autism researchers as well as neurobiologists studying regression in other disorders, specifically Rett Syndrome.  Rett Syndrome is characterized by a regression in symptoms around 18-30 months of age but is the result of a known genetic mutation.  Because the genetic mutation is know, researchers have been able to make huge advancements in the study of the cellular causes of regression.  Do they apply to autism?  The theory of overturning is presented and discussed in the workshop and on the podcast.  You can see the full agenda at:  https://iacc.hhs.gov/non-iacc-events/2016/loss-of-skill-agenda-february19.shtml

Here are some screen shots of the workshop:

 

Screen Shot 2016-02-19 at 10.59.01 AMScreen Shot 2016-02-19 at 10.40.33 AM

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A year of autism research in under 30 minutes

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What was impactful this year in autism research? This last podcast of 2015 explores the year of the female, highlighting the relatively new exploration into what makes females with ASD different and what they can tell us about everybody with autism and their families.  Some of what is discussed was highlighted in other podcasts, but not all of it.   The summary is organized so that what may initially be interpreted as small, nonsignificant discoveries, are viewed as progress.  Everything from genetics to getting laws passed is included.

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Autism Insurance Mandates: Necessary But Not Sufficient For Services

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Autism insurance mandates are wonderful.  They require insurance companies to pay for screening, diagnosis and treatment and services for people with autism.  But just because insurance will pay for it does not mean that it’s out there.  The idea of “build it and they will come” for insurance mandates is on it’s way, but not quite there.  Dr. David Mandell from University of Pennsylvania explains why in a new study.  Also, single genes that are associated with autism are a great start to look for causes and subtypes of people with autism, but they aren’t the final word to resolve the heterogeneity of ASD.  If you didn’t read the new story about new findings in brains of people with autism, read more on the ASF website.

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The triple crown of autism research gatherings

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Three important meetings of researchers took place this week.  First, the Interagency Autism Coordinating Committee, or IACC, met for the first time in over a year to discuss the coordination of private and federal efforts in autism research and advocacy.  Also, the Autism Sisters Project science committee met to figure out how they are going to find the female protective factor in autism, and what else the study can do when, and if, it is found.  Finally, a group of researchers who study autism in high risk families, before a formal diagnosis can be made, met to understand how the brains of people with autism are connected.  They also are working on new instruments to better diagnose both males and females with ASD.  Finally, in a press release from Tuesday, the NIH announced a partnership that will substantially improve autism research.  november17

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Sisters, sisters, there never were such devoted sisters

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A special podcast this week on the Autism Sisters Project, in partnership with Icahn School of Medicine.  I talk about how the idea came about, what ASF is doing to help find out what sisters can contribute to the science of autism, and why sisters are in a unique position to do so.  Please read Lauren Singer’s special letter to the editor to Molecular Autism about being an undiagnosed sister here: http://www.molecularautism.com/content/pdf/s13229-015-0046-8.pdf

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Moving away from genes OR environment towards genes AND environment

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On Thursday October 1st, Autism Science Foundation, Autism Speaks and the Escher Fund for Autism co-organized an online symposium which examined the possibility that early mutations in cells that pass along genetic information from generation to generation (sperm and egg and cells that make the sperm an egg) has a role in the causes of autism.  This symposium is on the ASF podcast feed, but a quick summary is presented on this week’s podcast.  Jill Escher from the Escher Fund for Autism and Mat Pletcher from Autism Speaks provide their perspective.  Also, a quick rundown on the study that caused so much monkeying around in the press.