The latest autism research news stories with ASF Chief Science Officer Alycia Halladay
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This week’s ASF podcast is a special treat – Dr. Daniel Geschwind from UCLA provides an understanding of the brains of people with autism, focusing on those with a mutation in chromosome 15. He goes over how they are similar and different (teaser: they are more similar) and answers questions from families about how this research is important for helping improve the lives of people across the spectrum.
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One of areas of genetic interest of autism is a region of chromosome 15. Only about 3% of people with autism have the mutation, but 80% of those with the mutation have autism. It is so important that people with duplications of this area have formed their own advocacy group called the Dup15 Alliance. I was honored to attend their family an scientific meeting and give a summary of what scientists have learned about autism through studying this chromosome, how kids with this mutation and autism are similar and different from those with autism but not the mutation, how the families are managing life threatening seizures, what the gene does, what the brains look like, and how mutations of this chromosome do in fact interact with the environment. Thank you to the scientists who study this area and the very brave, selfless and amazing parents who I talked to.