Understanding how TCF4 affects brain function in Pitt-Hopkins Syndrome
Official title: Investigating TCF4 and Synaptic Dysfunction in Pitt-Hopkins Syndrome
Funded at Lieber Institute, INC. · NIH-10997750 · Data updated 2026-11-12
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 start | August 1, 2024 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $42,574 |
| NIH project number | 1F31MH138091-01 |
| Project ID | NIH-10997750 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Pitt-Hopkins Syndrome or those with TCF4 mutations.
✕Less likely to help
Patients without Pitt-Hopkins Syndrome or related genetic mutations may not benefit from this research.
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.
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 gone: 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
-
Lieber Institute, INC.
Baltimore, United States Active
Researchers
- Principal investigator: Patel, Chintan R — Lieber Institute, INC.
- Study coordinator: Patel, Chintan R
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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.