ASF is proud to announce continued support for the Baby Siblings Research Consortium (BSRC), a network of over 33 research sites around the world studying the younger siblings of people with autism. The Baby Sibs database now tracks over 5,000 younger siblings, with and without autism. The database has been used to develop more sophisticated screening and diagnostic approaches, to understand early biological features of ASD even before symptoms develop, and to inform clinicians of early treatment targets. The additional funding will allow researchers to continue submitting information to expand data points so that a deeper understanding of development across the lifespan can be made. ASF support will also allow scientists to collaborate on key issues like early biological testing and searching for biomarkers of ASD.
On this week’s podcast, data obtained from brains of people with autism is reused and re-analyzed so that a new role of mitochondria and their relationship to the activity of synapse genes could be discovered. In addition, cellular stress is seen in the brains of people with autism. What comes first? Mitochondrial dysfunction and cellular stress or changes in brain development? These findings were thanks to resources provided by the Autism BrainNet. You can learn more about brain tissue donation by signing up at takesbrains.org.
The Interactive Autism Network published an article explaining the latest epigenetics research in autism. It highlights how environmental factors, both internal and external, affect genes and influence an individual’s development. Including findings made from Autism BrainNet tissue resources, research is demonstrating how epigenetics may play a role in the development and severity of autism. Read the full article here.
With hundreds of genes, thousands of environmental factors, and now sex being variables in determining risk for autism, where should science start? Over the decades researchers have been able to start narrowing down the combinations based on specific behaviors of interest, genes, and mechanisms which may narrow down which gene, which environmental factor and which sex. Dr. Sara Schaafsma and Dr. Donald Pfaff from Rockefeller University combined the three, and found that epigenetic changes in an autism risk gene called contact in associated protein like 2 contributed to elevation of risk for autism behaviors following maternal infection. In other words, being male and having the mutation produced small changes, increased by the environmental factor. In another separate study, Dr. Keith Dunaway and Dr. Janine LaSalle at UC Davis used brain tissue to look at a rare variant for autism on chromosome 15. Typically, mutations of this area of the genome are thought to cause autism. However, the effects of these mutations are also increased when environmental factors are present, leading to more de novo mutations. These are all examples of scientific breakthroughs that are helping better understand what causes autism. Even when it looks like one thing, it’s multiple things.