Genetic Discoveries That Could Revolutionize Medicine

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Joined: 23 Nov 2006
Age: 34
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Location: Portland, Oregon

15 Jun 2024, 5:54 pm

Silly NTs, I have Aspergers, and having Aspergers is gr-r-reat!


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Joined: 21 Feb 2011
Age: 56
Gender: Male
Posts: 34,539

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.”