Genetic Discoveries That Could Revolutionize Medicine

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AnonymousAnonymous
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15 Jun 2024, 5:54 pm

https://scitechdaily.com/inside-the-human-brain-genetic-discoveries-that-could-revolutionize-medicine/


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cyberdad
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28 Jun 2024, 10:28 pm

Relevant part -

Implications for Neurodevelopmental Disorders
The researchers found thousands of isoform switches that occur during brain development, implicating previously uncharacterized RNA-binding proteins in cellular identity and cellular fate decisions. Their findings also elucidate genetic risk mechanisms for neurodevelopmental and neuropsychiatric disorders, including a reassessment of the significance and clinical relevance of thousands of rare genetic variants.

“We found that high-confidence risk genes for autism or neurodevelopmental disorders tend to be genes that have more isoforms, and those isoforms are expressed differently during neurogenesis,” said de la Torre-Ubieta, an assistant professor of psychiatry and behavioral sciences. “This implies that dysregulation of the expression of specific isoforms is a potential mechanism underlying these disorders.”