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Rare Disease Week, the FDA, mortality in autism, trajectories and subcategories

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This week’s podcast summarizes some highlights in scientific research and includes a recognition of Rare Disease Week and actions taken by the FDA to ease the criteria for evaluating genetic therapies for rare genetic disorders, the best study to date on the mortality in autism, genetic prediction of outcome in individuals with a diagnosis, and Uta Frith’s commentary on the concept of “spectrum”.

https://pubmed.ncbi.nlm.nih.gov/41773580

https://pubmed.ncbi.nlm.nih.gov/41651809

https://pubmed.ncbi.nlm.nih.gov/41661606

https://archive.ph/fPscR

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Genetic pathways leading to autism

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A landmark study that uses brain organoids from different people with different genes associated with autism showed that the different genes act as roads that go on different journeys to the same destination. This will be an enormously important discovery for identifying targets to treat different autism symptoms across different genetic causes of autism and understand the diversity of symptoms. Also, the new Interagency Autism Coordinating Committee was announced and there is not much breadth of perspectives.

https://www.nature.com/articles/s41586-025-10047-5

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Ribbit…Ribbit… frogs are the new mouse of ASD research

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You’ve heard a lot about CRISPR technology to manipulate gene expression. But what have scientists actually learned? Well, the cells in which DNA is manipulated could come from different animal models, including frogs and mice. These model systems are used to track brain development, sex differences, and the downstream effects of convergence of genetic manipulations of autism relevant genes on brain cells. They can be used, as one study demonstrated, to examine protective or resilience factors in the brain. This week we talk to Helen Willsey, PhD, at UCSF to hear about her research about manipulating genes in frog eggs and what it says about the female protective effect.

https://pubmed.ncbi.nlm.nih.gov/33497602/

https://pubmed.ncbi.nlm.nih.gov/33243861/