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Another gene that causes autism and what families are doing about it

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A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile.  But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism.  This may put it into the category of the rare mutations that have a major contribution to autism symptoms.   In addition to autism, mutations of these gene are associated with seizures and epilepsy.  Because of the relatively high rates of mutations of this gene in autism and epilepsy, an amazing group of motivated families formed an organization to help support and awareness for this gene mutation.  This week’s podcast includes a message from one of the leaders of this foundation:  FamileSCN2A who are dedicated to help their children with the knowledge about their child’s genetic makeup.

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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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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.

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Early Germline Events in the Heritable Etiology of ASDs

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On October 1st, Autism Science Foundation, Autism Speaks and the Escher Fund for Autism co-organized a webinar entitled “Early Germline Events in the Heritable Etiology of ASDs”.  The goal was to bring together researchers who study the germline (the sperm and the egg and all cells which pass down genetic information) and those studying the genetics of autism to determine how “de novo” or “new” genetic mutations are happening and how environment plays a role in genetics of autism and vice versa, rather than separating the concepts out into “either/or” .  This is part of an ongoing online symposium series on the epigenetics of autism.  Dr. Amander Clark from UCLA and Dr. Ryan Yuen from SickKids Hospital presented and a panel of experts including Lisa Chadwick from NIEHS, Patrick Allard from UCLA, Stephan Sanders from UCSF and Janine LaSalle from UCDavis commented.  We hope you enjoy the 2 hour webinar.

 

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Rare vs. common genetic variation in autism? They are both right.

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This week’s podcast summarizes a new study which finds that in some people with autism, it takes just a few small mutations in a few key autism genes to lead to a diagnosis.  This is called the ‘rare variation theory’, but while it has been pretty well established, researchers still don’t know where these gene mutations come from.  A new joint ASF/AS/Escher Fund online symposium on October 1st from 1-3PM EST explores this issue.  Register here:

http://www.autismsciencefoundation.org/news/free-webinar-interaction-enviornment-and-genetics-autism-october-1st

Also, detecting early signs and symptoms is the key to intervening at a key critical time in brain development.  These early signs include stereotypy and sensory symptoms and patterns of these behaviors are different in people with autism.  How?  Listen to the ASF podcast to hear more.