Pitt Hopkins Research Foundation

The Pitt Hopkins Research Foundation is dedicated to finding treatments, and an eventual cure for Pitt Hopkins Syndrome, as well as providing support to our community.

Pitt Hopkins is a rare and severe neuro-developmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. It is characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, seizures and severe intellectual disability. Most individuals with Pitt Hopkins do not develop functional speech. Pitt Hopkins affects all races and both genders equally. 

Since the gene that causes Pitt Hopkins was only found in 2007, currently there are less than 500 children in the world diagnosed with this syndrome, however we believe there are many more. Because loss of TCF4 prevents neurons from functioning currently, scientists believe that studying Pitt Hopkins will yield important insight into other neurological disorders. 

Every cent that Pitt Hopkins Research Foundation raises goes to the research- and this is important. The research is truly cutting edge, and if you know anyone with Schizophrenia, Alzheimer's or Autism, then this is of interest because single gene disorders like Pitt Hopkins (where the cause has been identified) is one of science's best hopes for finding treatment for other genetically caused syndromes. This research affects us all.

Please donate today and help us fight for miracles!

If you want to be inspired by the children and families of Pitt Hopkins and the amazing work they have accomplished in just two short years, please check out www.pitthopkins.org and, for a mom's journey in her own words, read our president's article from UVA Magazine: http://uvamagazine.org/first_person/article/the_quality_of_souls#.UXX-lYKcNxW.

Or you can check out how special our kids are right here! We promise they'll teach you a thing or two! https://www.youtube.com/watch?v=y_SrY2O9eKA