In a new study, scientists at Northwestern Medicine and the Broad Institute of MIT and Harvard have identified an RNA that regulates production of the CHD2 protein linked to genetic disorders including epilepsy and autism. The findings, which were published in the New England Journal of Medicine, reveal a new potential mechanism for treating these disorders and underscore the importance of studying the human genome.

CHD2: A “Goldilocks gene”

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding (CHD2) gene can develop a rare and severe neurodevelopmental disorder that renders them non-ambulatory, nonverbal and with profound intellectual delays.