About two weeks ago, the National Institute of Health announced part of the government’s commitment to autism research through the ACE projects, or Autism Centers for Excellence. Highly competitive and intensely scrutinized, these 5 year projects all investigates areas of autism aimed at helping people with ASD and their families. This week’s podcast summaries them, discusses how they interact and complement each other, and explains how they are going to affect the lives of people with autism.
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.