The National Brain Gene Registry aims to better understand the impact of rare gene variants in intellectual and developmental disabilities. Through a central registry that collects detailed and standardized information, the NBR hopes to contribute to the discovery patterns underlying rare neurodevelopmental conditions.

Recent advances in clinical genomic sequencing have resulted in the identification of rare gene variants that contribute to a range of neurodevelopmental disorders (NDDs). Identification of such variants has generated opportunities to accelerate discovery and improve clinical treatment.  However, there is not a current mechanism in place to link this valuable genetic data to clinically relevant information, such as electronic health record (EHR) data.

The National Brain Registry will gather genetic data into one database in order to rapidly advance knowledge of the effects of specific genetic variations on human development, and to understand the role that genes play in disorders of the brain (i.e.neurodevelopmental disorders—NDDs).

The Registry is a highly collaborative initiative led by investigators at Washington University in St. Louis, Harvard Medical School/Boston Children’s Hospital, and the University of North Carolina.  It is funded by the NIH’s National Center for Advancing Translational Sciences.

Congratulations to Dr. Mustafa Sahin, Kira Dies, Dr. Maya Chopra and Dr. Siddarth Srivastava, the BCH team in this exciting collaborative project along with teams from Washington Univerisity (lead institution) and the Univ. of North Carolina.

To learn more visit:
National Brain Gene Registry