A New Study Finds That Gene Therapy May Prevent or Reverse Pitt-Hopkins Syndrome
In normal development, genes are usually inherited in pairs - with one copy from the father and one inherited from the mother. When one copy of the TCF4 gene, which…
In normal development, genes are usually inherited in pairs - with one copy from the father and one inherited from the mother. When one copy of the TCF4 gene, which…
The Pitt Hopkins Family Conference & Scientific Symposium (PHRF Conference) will be held June 23rd through June 25th, 2022 in Chicago to raise awareness and share research updates for Pitt…
A recent announcement by Atomico, one of Europe’s largest venture capital firms based in London, introduced its new partner Healx. The startup can boast of having the world’s most comprehensive…
A guest speaker at the 2019 Rare Disease Forum recently held at the North Carolina Biotechnology Center acknowledged that screening is necessary to justify the need for a particular…
Happy Holidays, Patient Worthians! As we celebrate the holidays this year, we take a moment to reflect on the things that matter most deeply to us. This week, we have…
Xander Williamson is among 600 people in the world, and merely 11 people in Australia, to have Pitt-Hopkins syndrome. His mother Melissa had no idea she would be returning from…
What would you do if your child was born with a rare neurological disease? So was the case for a small town boy. In Orangeville, Ontario, Ryder Ouderkirk lives with…