Summary
Trisomy 21 (Down Syndrome – DS) is the most common genetic abnormality disorder in humans, with an estimated incidence of ~1 in 700 live births worldwide, resulting from triplication of all or part of chromosome 21; however, genetic aneuploidy alone does not fully account for many of the physiological and cognitive deficits associated with this disorder. We previously identified a novel, brain enriched chromatin effector protein, BRWD1, which is triplicated in DS and plays a significant role in the mediation of aberrant patterns of transcription, neurological plasticity and cognitive impairments that define Trisomy 21. Using a unique combination of genetic rescue, behavioral, biochemical, proteomic and epigenomic approaches, we are now mechanistically investigating BRWD1's cell-type specific contributions to neural development and DS associated neurological impairments, with the hopes that such findings will aid in our basic understanding of the molecular phenomena that precipitate DS and inform on the possibility of postnatal treatments for this pervasive disorder