The Pitt Hopkins Research Foundation is served by two boards; The Board of Directors and the Scientific Advisory Board. Together, we are working hard to promote awareness of Pitt Hopkins Syndrome and bring practical treatment into current medical practice as quickly as possible.
The mission of the Pitt Hopkins Research Foundation (PHRF) is to support research dedicated to finding a treatment, and an eventual cure for Pitt Hopkins Syndrome and other similar disorders. The PHRF is also dedicated to supporting the Pitt Hopkins community with resource recommendations, parental support and the latest medical information.
What is Pitt Hopkins?
Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, recurrent seizures/epilepsy, gastrointestinal issues, lack of speech, and distinctive facial features
