Developing new therapies for genetic disorders affecting the RAS/MAPK pathway
Official title: Therapy Development for Genetic Disorders of the RAS/MAPK Pathway
Funded at Icahn School of Medicine at Mount Sinai · NIH-11078785 · Data updated 2026-11-12
This study is looking for better and safer treatments for RASopathies, which are genetic disorders, by testing a new promising drug called M1 in special models like fruit flies and human cells, to help people who have these conditions feel better without the harsh side effects of current options.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | May 1, 2024 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $679,348 |
| NIH project number | 5R01HL173006-02 |
| Project ID | NIH-11078785 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with RASopathies or related genetic disorders that affect the RAS/MAPK signaling pathway.
✕Less likely to help
Patients with RASopathies who do not respond to therapies targeting the RAS/MAPK pathway may not benefit from this research.
What this research studies
This research focuses on developing new treatments for RASopathies, which are genetic disorders that disrupt the RAS/MAPK signaling pathway. The team is using advanced models, including transgenic fruit flies and human stem cells, to identify effective drug candidates that can target these disorders without the severe side effects associated with current therapies. They have already discovered a promising compound, M1, and are working to enhance its effectiveness and understand its mechanisms. The goal is to create safer and more effective treatments for patients suffering from these complex genetic conditions.
Why it matters
Potential benefit: If successful, this research could lead to safer and more effective therapies for patients with RASopathies, improving their quality of life.
How similar studies have gone: Previous research has shown promise in targeting the RAS/MAPK pathway, but this approach aims to develop novel therapies that have not yet been tested.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Gelb, Bruce D — Icahn School of Medicine at Mount Sinai
- Study coordinator: Gelb, Bruce D
Related research
Other NIH-funded projects on the same topics.
-
Improving Breast Cancer Guideline Adherence in Nigeria
Aimed at helping doctors in Nigeria follow international guideline-based breast cancer care to improve outcomes for women with breast cancer.
-
Genetically Validated PCOS Subtypes for Better Diagnosis and Risk Stratification
Aimed at women with polycystic ovary syndrome (PCOS), this project uses genetic data and patient characteristics to define distinct PCOS subtypes and improve how we diagnose and estimate risk.
-
Closed-loop control of interneuron timing to influence seizures and memory in epilepsy
A study tests a brain-quieting system that uses light to precisely time certain brain cells in epilepsy-prone mice to see if this can lessen seizures and improve memory.
-
Understanding why some brain regions and cells accumulate tau in Alzheimer’s and related diseases
Researchers are studying why certain brain areas and neuron types accumulate tau protein in Alzheimer’s and related conditions, and how this leads to brain changes and symptoms.
-
Improving blood flow after stroke by breaking down NETs
Aims to see if breaking down neutrophil extracellular traps (NETs) after an ischemic stroke can improve blood flow and reduce brain injury in patients.
-
Aging and brain injury connection: learning how late-life TBI relates to Alzheimer’s and related dementias
This grant looks at whether traumatic brain injuries in people 65 and older are linked to Alzheimer’s disease and related dementias, using a large, harmonized set of long-term aging studies.
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.