Mustafa Sahin, MD, PhD, Neurologist-in-Chief and Chair of the Department of Neurology at Boston Children's Hospital, and his collaborators have been awarded an NIH grant of over $8.6 million for the third five-year cycle of the Rare Disease Clinical Research Network (RDCRN) project, “Developmental Synaptopathies Associated with TSC, PTEN, SHANK3, and SynGAP1 Pathogenic Variants”.
This grant, which now involves 13 hospitals across the United States, aims to continue the comprehensive characterization of individuals with these rare diseases, focusing on cognition, communication, and neuropsychiatric symptoms. The project also seeks to develop neurophysiological biomarkers of sleep and sensory deficits, support pilot projects through strategic disorder-specific priorities, and foster a new generation of skilled investigators. Additionally, efforts to expand the research activities and effective dissemination of information, and plan for the consortium’s sustainability beyond RDCRN funding will also be a main focus of the next five years. This initiative represents a significant step forward in both rare disease research and patient advocacy.
“Our work with many institutions across the United States and partnership with many patient advocacy groups to date have brought several clinical intervention trials to these rare genetic neurodevelopmental disorders," noted Dr. Sahin, Consortium Lead Principal Investigator. "Our infrastructure and experience also provide a roadmap for comparative analysis across conditions with the goal of providing more therapeutic opportunities for these rare disease communities.”