Pitt Hopkins Research Foundation (USA)

What is Pitt Hopkins Syndrome? Imagine the symptoms of Autism, Cerebral Palsy, Parkinson’s, IBS, Epilepsy and Anxiety Disorder… all in one child.

Pitt Hopkins is a serious lifelong neurological disorder that is caused by random mutations in a gene called TCF4. Many children with Pitt Hopkins are unable to speak, walk or use their hands effectively. Breathing problems, feeding tubes, seizures, anxiety, gastrointestinal and orthopedic issues are common.

In 2020, Eurofins Foundation provided the PHRF with a research grant to test brain organoids of a Pitt Hopkins Syndrome model for therapeutic potential. This project investigates the cellular and molecular mechanisms behind Pitt Hopkins Syndrome (PTHS), to understand the brain pathological consequences of clinically-relevant TCF4 mutations, by using human neural development models in vitro. It also aims at testing correctional molecular strategies to fix the expression of TCF4, which could eventually be used as a therapy approach in human patients.

Led by Dr. Alysson Muotri, the lab has completed all of their stated goals with success. Gene therapy now seems viable and a new biotechnology company is in the process of licensing this program to bring it to clinical trial.

This project contributes to the following United Nations' Sustainable Development Goal

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