The Pitt Hopkins Research Foundation is a non-profit organization committed to supporting research dedicated to finding a treatment, and an eventual cure of Pitt Hopkins and other similar disorders. Visit www.pitthopkins.org for more information.
The Pitt Hopkins Pedalers are back!
Including $50,000 in matching funds that we were awarded from the UPenn Center for Orphan Disease Research, we ended up with over $100,000 for research from MDBR 2017! With those donations, we were able to fund the research of Dr. Andrew Kennedy at Bates College and Dr. Benjamin Philpot at University of North Carolina, Chapel Hill. We are so excited to have these great researchers on our team working to find a treatment for Pitt Hopkins.
What is Pitt Hopkins Syndrome?
Pitt Hopkins Syndrome is a rare, neuro-developmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. It is characterized by developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, seizures, gastrointestinal issues, lack of speech, and distinctive facial features. Pitt Hopkins affects all races and both genders equally.
Since the gene that causes Pitt Hopkins was only found in 2007, currently there are about 750 people in the world diagnosed with this syndrome, however we believe there are many more. Because loss of TCF4 prevents neurons from functioning currently, our scientist believe that studying Pitt Hopkins will also give us important insight into other neurological disorders with no known etiology like Alzheimers, Autism and Epilepsy.
For more information on Pitt Hopkins please visit www.pitthopkins.org.