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 (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, lack of speech, and distinctive facial features. As we learn more about Pitt-Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety and ADHD, and sensory disorders. The genetic cause of PTHS was only recently discovered when several labs working independently identified point mutations and widespread disruption in the TCF4 gene as the underlying basis of the syndrome.
The Philpot lab focuses on uncovering the molecular mechanisms regulated by TCF4 in the nervous system, with the future aim of designing rationale therapeutics for PTHS.
Towards this goal we are currently employing cell biological, molecular, and genetic tools, including two novel mouse models of PTHS.