NIH Awards $8.6 Million Grant to Study Neurodevelopmental Conditions

Rare Daily Staff

The National Institutes of Health awarded Mustafa Sahin, neurologist-in-chief and chair of the Department of Neurology at Boston Children’s Hospital, and his collaborators $8.6 million to continue work on a group of neurodevelopmental disorders known as synaptopathies.

It is the third five-year cycle for the Rare Disease Clinical Research Network project, which aims to characterize individuals with these rare diseases, with a focus on cognition, communication, and neuropsychiatric symptoms. The work includes studying people with pathogenic variants of the TSC, PTEN, SHANK3, and SynGAP1 genes.

The project, which now involves 13 hospitals across the United States, also aims 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.

“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,” said Sahin, the consortium’s 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.”