November 2013 – Drs. Ben Philpot, Courtney Thaxton, and Mark Zylka have been awarded $50,000 to study Pitt Hopkins mouse models.

Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by intellectual disability and developmental delay which range from moderate to severe, possible breathing problems of episodic hyperventilation and/or breath-holding while awake (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, and distinctive facial features.1

Pitt Hopkins Research Foundation >>