Understanding how TCF4 affects brain function in Pitt-Hopkins Syndrome
Investigating TCF4 and Synaptic Dysfunction in Pitt-Hopkins Syndrome
This study is looking at how changes in the TCF4 gene affect brain function in people with Pitt-Hopkins Syndrome, a type of autism, and it hopes to find ways to help improve brain activity using a special protein.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lieber Institute, INC. NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-10997750 on NIH RePORTER |
What this research studies
This research investigates the role of the TCF4 gene in Pitt-Hopkins Syndrome, a form of autism spectrum disorder. By using patient-derived cells, the study aims to model how TCF4 mutations impact synaptic transmission in the brain. Researchers will focus on the presynaptic functions of TCF4 and explore the potential of a protein called RIMBP2 to restore normal brain activity. The goal is to better understand the underlying mechanisms of this condition and identify possible therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Pitt-Hopkins Syndrome or those with TCF4 mutations.
Not a fit: Patients without Pitt-Hopkins Syndrome or related genetic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve brain function and quality of life for individuals with Pitt-Hopkins Syndrome.
How similar studies have performed: Previous research has shown promise in understanding genetic factors in autism, but this specific approach using patient-derived cells is relatively novel.
Where this research is happening
Baltimore, United States
- Lieber Institute, INC. — Baltimore, United States (Active)
Researchers
- Principal investigator: Patel, Chintan R — Lieber Institute, INC.
- Study coordinator: Patel, Chintan R
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.