Neurodevelopmental Disorders With Rochelle Hines
Research by a team of neuroscientists from the University of Nevada, Las Vegas (UNVL) has shown that it is possible to identify the molecular mechanisms underlying a host of adverse symptoms associated with unique subtypes of neurodevelopmental disorders. This work could one day improve the lives of millions of people worldwide.
Intellectual disability (ID) is a common neurodevelopmental disorder that can arise from genetic mutations ranging from trisomy to single nucleotide polymorphism. Trisomy of the 21st chromosome (Down syndrome) is the most common underlying cause of ID, but mutations in a growing number of single genes have been identified as causative in ID, including NONO and ARHGEF9.
In this episode of Teach Me in 10, UNLV neuroscientist Dr. Rochelle Hines joins us to discuss the team’s latest findings, which show that mutations in ARHGEF9 — the gene that codes for collybistin — lead to ID through impaired α2 subunit function.
Want to learn more? Rochelle suggests you check out the following resources:
https://www.nature.com/articles/s41380-022-01468-z
https://www.nature.com/articles/s41467-018-05481-1
