Transgenerationally Inherited Metabolic Disorders in Autism - Richard Frye MD PhD - Synchrony 2023

Autism spectrum disorder (ASD) has a high heritability which has been assumed to be of genetic origin, but genetic studies have repeatedly been unable to confirm inherited genetic disorders as a major cause of ASD. Indeed, when genetic abnormalities are found they are usually de novo. Recent research is providing evidence of metabolic disorders associated with a majority of children with ASD, including abnormalities in folate, mitochondrial and transmethylation/transsulfuration metabolism.
All of these disorders have evidence of transgenerational inheritance without a clear genetic component. These pathways are highly influenced by environmental factors and are prime pathways to study to understand environmental x genetic (probably polygenic) interaction that contribute to ASD.
Studying these abnormalities from the top down (physiological abnormalities) rather than from the bottom up (genetic changes) may help uncover the complicated combination of factors which result in ASD and other neurodevelopmental disorders.
🎥 This talk was part of Synchrony 2023 Online Symposium - 'From Bench to Biopharma', organised by the The BRAIN Foundation
🎥 Synchrony 2023 playlist: • Synchrony Symposium 2023
Synchrony brainfoundatio... is the first and only international symposium on translational research in #autism, that brings together academia, #biotech, #pharmaceuticalcompanies and venture partners from around the world with the mission to improve health and quality of life of people with #autismspectrumdisorder.
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The BRAIN Foundation brainfoundatio... is a 501c(3) non-profit. The founders of BRAIN envision a world where every child and adult on the autism spectrum is healthy, participates fully in education and employment, and has a better quality of life. It aims to catalyze research that results in evidence-based interventions for the disabilities associated with autism, and also results in better medical standard of care. To accomplish this, it funds impactful research through #philanthropy and our network of partners in the venture, corporate, and grassroots community.