MDBR - Pitt Hopkins Syndrome

Two $49,263 pilot grants available. Pitt Hopkins Syndrome is due to a deficiency in the TCF4 gene and is characterized by severe intellectual disability and developmental delay. Other symptoms include episodic hyperventilation and/or breath-holding (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, and distinctive facial features. The Pitt Hopkins Research Foundation would like to focus this research on finding therapeutics and a cure for this debilitating syndrome and are not interested in natural history studies at this time. These grants are made possible by Team Pitt Hopkins Pedalers with the Pitt Hopkins Research Foundation.


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