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Breakthrough for those with rare genetic disorders

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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

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The 2018 Year in Review: A spectrum within a spectrum

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There were a number of exciting advances in scientific understanding autism in 2018.  These include things that we know to be true, and know to be not true.  Researchers made progress in identifying subgroups of ASD, defining biological markers, and developing  interventions. There were also research that demonstrates that while autism is a spectrum itself, it is also part of a bigger spectrum of neurodevelopmental disorders from anxiety to ADHD to OCD.  Therefore, the approaches to these other conditions may be applicable to ASD. In addition, there may be more similarities than differences in the biological features of these conditions.

This is just a sampling of the exciting research presented on this year’s Year in Review.  You can also read the full summary, complete with references, HERE.

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Sisters, sisters, there never were such devoted sisters

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A special podcast this week on the Autism Sisters Project, in partnership with Icahn School of Medicine.  I talk about how the idea came about, what ASF is doing to help find out what sisters can contribute to the science of autism, and why sisters are in a unique position to do so.  Please read Lauren Singer’s special letter to the editor to Molecular Autism about being an undiagnosed sister here: http://www.molecularautism.com/content/pdf/s13229-015-0046-8.pdf