Creating a comprehensive database for neurometabolic diseases
Official title: Universal Database for Neurometabolic Diseases
Funded at Icahn School of Medicine at Mount Sinai · NIH-11058036 · Data updated 2026-11-12
This study is creating a helpful online tool that brings together information about over 1600 genetic brain and metabolic disorders to support doctors in providing better care for patients who have these conditions.
Quick facts
| Grant type | R03 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 | September 21, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $169,000 |
| NIH project number | 1R03NS137124-01A1 |
| Project ID | NIH-11058036 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with any of the 1600 genetic neurometabolic diseases or those at risk of these conditions.
✕Less likely to help
Patients with non-genetic neurological disorders or those not affected by neurometabolic diseases may not benefit from this research.
What this research studies
This research aims to develop a smart online platform that consolidates information on over 1600 genetic neurometabolic diseases, which are often progressive and lead to significant neurological deficits. By addressing the current lack of accessible and structured data, the project seeks to assist healthcare providers in making informed decisions and improve patient management. The platform will facilitate meta-analysis and integration with other resources, ultimately aiming to enhance understanding and treatment of these complex conditions. This initiative is particularly important as many physicians lack formal training in neurometabolism, leading to inadequate patient care.
Why it matters
Potential benefit: If successful, this research could significantly improve the diagnosis and management of neurometabolic diseases, leading to better patient outcomes and reduced suffering.
How similar studies have gone: While the approach of creating a centralized database for neurometabolic diseases is innovative, similar initiatives in other areas of medicine have shown success in improving patient care and outcomes.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Marin-Valencia, Isaac — Icahn School of Medicine at Mount Sinai
- Study coordinator: Marin-Valencia, Isaac
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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.