About
Pitt Hopkins Syndrome
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. Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling and laughter.
Pitt Hopkins syndrome is considered an Autism Spectrum Disorder. Because of its genetic relationship to autism and other disorders, many researchers believe that curing Pitt Hopkins syndrome will lead to cures for similar disorders.
It is likely that there are many people affected by TCF4 mutations who have mild symptoms. With continued research and awareness of Pitt Hopkins, we hope to build a more comprehensive understanding of the spectrum of this disorder, and begin the search for a desperately needed cure.
Pitt Hopkins Research Foundation reports there are currently close to 1500 families with PTHS in their global census and this number is growing every day as genetic diagnoses increase. TCF4, the gene that causes Pitt Hopkins is implicated in various other disorders too, including Schizophrenia , Autism, Fuchs Corneal Dystrophy, and Liver Disease. The study of this important gene could have wide reaching effects for Pitt Hopkins and beyond. Even though the cause of PTHS is known, there are currently no pharmaceutical treatments available for this disorder. The Pitt Hopkins Foundation is committed to accelerating progress toward effective treatments and ultimately a cure for PTHS, by directly funding the most promising research.
About
Pitt Hopkins Research Foundation
The Pitt Hopkins Research Foundation supports research dedicated to finding a treatment, and an eventual cure of Pitt Hopkins Syndrome (PTHS) and other similar disorders, such as Autism. Their goal is to find a treatment as quickly as possible that will help give our children higher functioning and fuller lives. The research and hope for a better tomorrow for our children is huge.
Since beginning in 2012, the Pitt Hopkins Research Foundation has funded over $4,500,000 in research grants and awards. In just 12 years, scientists discovered not one, but two therapeutics that have reversed the symptoms of PTHS in the mice. They are working hard to bring more drugs and more therapeutics to trial SOON. Since their efforts have shown dramatic symptom reversal in mice, they have attracted attention from university and pharmaceutical scientists, the National Institute of Mental Health (NIMH), and the California Institute for Regenerative Medicine (CIRM). The NIMH and the CIRM have supported our seed grants with $7,619,000 in additional research dollars.
The Pitt Hopkins Research Foundation is the only organization in the world devoted to funding research for PTHS.
