Understanding the causes of craniofacial disorders related to splicing mutations
Official title: Deciphering the underlying mechanisms of craniofacial spliceosomopathies
Funded at New York University · NIH-11033473 · Data updated 2026-11-12
This study is looking into Nager syndrome, a rare condition that affects the face and limbs, to understand how changes in a specific gene cause its unique features, which could eventually help find new treatments for people with this syndrome.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 25, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $123,585 |
| NIH project number | 1K99DE034476-01 |
| Project ID | NIH-11033473 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with Nager syndrome or other related craniofacial spliceosomopathies.
✕Less likely to help
Patients with craniofacial disorders not linked to spliceosome mutations may not benefit from this research.
What this research studies
This research investigates Nager syndrome, a rare craniofacial and limb disorder caused by mutations in the SF3B4 gene. By using a combination of animal models and patient-derived stem cells, the study aims to uncover the specific mechanisms that lead to the unique features of this condition. The research will explore how these genetic mutations affect the development of craniofacial structures, providing insights into the pathology of Nager syndrome and related disorders. This approach may help identify potential therapeutic targets for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for patients with Nager syndrome and similar craniofacial disorders.
How similar studies have gone: While the specific mechanisms of Nager syndrome are not fully understood, similar research approaches have shown promise in elucidating the causes of other genetic disorders.
Where this research is happening
-
New York University
New York, United States Active
Researchers
- Principal investigator: Griffin, Casey — New York University
- Study coordinator: Griffin, Casey
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.