Investigating brain cells affected by genetic mutations in Jansen de Vries Syndrome
Official title: Molecular analysis of glutamatergic neurons derived from iPSCs containing PPM1D truncating mutations found in Jansen de Vries Syndrome
Funded at Albert Einstein College of Medicine · NIH-10757926 · Data updated 2026-11-12
This study is looking at how changes in a specific gene might affect brain cells in people with Jansen de Vries Syndrome, and if you have this condition, you can help by sharing samples that will help researchers understand the symptoms better and work towards new treatments.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | January 1, 2023 |
| Project end | December 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $252,000 |
| NIH project number | 5R21MH131740-02 |
| Project ID | NIH-10757926 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for participation are individuals diagnosed with Jansen de Vries Syndrome, particularly those with identified PPM1D mutations.
✕Less likely to help
Patients without Jansen de Vries Syndrome or those with different genetic mutations may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic mutations in the PPM1D gene affect glutamatergic neurons derived from induced pluripotent stem cells (iPSCs) in individuals with Jansen de Vries Syndrome. By analyzing these neurons, the research aims to determine whether the mutations lead to a gain or loss of function in brain cells, which could provide insights into the neurological symptoms associated with this condition. The study employs advanced molecular techniques to explore the cellular mechanisms at play, potentially paving the way for targeted therapies. Patients may be able to contribute by providing iPSC samples, which will be used to model the disease in the lab.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for managing the neurological symptoms of Jansen de Vries Syndrome.
How similar studies have gone: While the specific approach of analyzing iPSC-derived neurons in this context is relatively novel, similar studies have shown promise in understanding other genetic disorders.
Where this research is happening
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Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Lachman, Herbert M — Albert Einstein College of Medicine
- Study coordinator: Lachman, Herbert M
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.