Autism Science Foundation Weekly Science Report

Autism Science Foundation Weekly Science Report


Breakthrough for those with rare genetic disorders

June 29, 2024

This week, more on genetics as an influence to an autism diagnosis with a twist: can genetics lead to a specific treatment for core symptoms – across the board? How do you measure such broad symptoms? Our Rett Syndrome family friends and colleagues developed a novel outcome measure to capture what was most important to them, and the FDA approved it for use in a clinical trial. Years later, a new drug was approved that led to a reduction in behaviors associated with Rett Syndrome. Autism can take a lesson from this. In addition, can the genetics of autism be explained by parents with similar phenotypes? This is called assortative mating. The answer is complex.



https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450502/pdf/fped-11-1229553.pdf



https://www.nature.com/articles/s41591-023-02398-1



https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38877467