Investigating energy metabolism in genetic disorders related to the RAS pathway
Official title: Energetic metabolism in RASopathies as a novel therapeutic target
Funded at New York University School of Medicine · NIH-11035817 · Data updated 2026-11-12
This study is looking at how certain genetic disorders called RASopathies affect energy production in cells, using mice to help find new ways to improve health for people with these conditions.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University School of Medicine NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 19, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $466,125 |
| NIH project number | 1R21HD117260-01 |
| Project ID | NIH-11035817 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with RASopathies such as Noonan syndrome, Cardio-facio-cutaneous syndrome, or Costello syndrome.
✕Less likely to help
Patients without a diagnosis of RASopathies or those with unrelated genetic disorders may not benefit from this research.
What this research studies
This research focuses on RASopathies, a group of genetic disorders caused by mutations in the RAS/MAPK pathway, which can lead to various health issues including cardiovascular problems and developmental delays. The study aims to explore how these disorders affect mitochondrial function and energy metabolism in a mouse model that mimics the human condition. By analyzing mitochondrial morphology, enzymatic activities, and oxygen consumption, the researchers hope to identify potential therapeutic targets that could improve patient outcomes. This work is crucial as current treatment options for RASopathies are limited, and understanding the underlying metabolic dysfunctions may pave the way for new interventions.
Why it matters
Potential benefit: If successful, this research could lead to novel therapies that improve the health and quality of life for patients with RASopathies.
How similar studies have gone: While the approach of targeting metabolic dysfunction in RASopathies is relatively novel, there is emerging evidence from other studies suggesting that metabolic interventions can be beneficial in similar genetic disorders.
Where this research is happening
-
New York University School of Medicine
New York, United States Active
Researchers
- Principal investigator: Castel, Pau — New York University School of Medicine
- Study coordinator: Castel, Pau
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.