Inside the Human Brain: Genetic Discoveries That Could Revolutionize Medicine

New study could improve the ability to make genetic diagnoses and treat neurodevelopmental disorders.

Regulation of isoforms — varied versions of RNA and proteins that can be produced from a single gene — is a critical tool in understanding brain development and genetic risk for neuropsychiatric disorders.
Using new sequencing technologies, UCLA and University of Pennsylvania researchers uncovered 214,516 unique isoforms in the developing neocortex — over 70% of which have not been previously studied.
The findings could have far-reaching implications for our understanding of the brain’s maturation and in developing therapeutic trials for individuals harboring rare mutations associated with psychiatric or neurodevelopmental disorders.