# Universal Database for Neurometabolic Diseases

> **NIH NIH R03** · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2024 · $169,000

## Abstract

PROJECT SUMMARY
Neurometabolic diseases encompass a wide range of more than 1600 genetic conditions caused by a
metabolic defect that results in significant neurological deficits. The incidence is estimated to be 1 in 800 births
and the number of reported cases is increasing every year largely due to the advancements in genetic
diagnostics. The natural course of these conditions is primarily progressive, and without effective interventions,
patients experience a decline in neurological function, frequently resulting in premature mortality. Despite the
magnitude of the problem, available information about these diseases is scattered (often a list of facts or long
tables), is not publicly accessible for meta-analysis or integration with third-party sites, and it is unavailable for
quantification of underlying annotation. This lack of accessible and structured information exacerbates the
challenge faced by physicians, including neurologists, psychiatrists, and general practitioners, who often do not
receive formal training in neurometabolism. Consequently, patients often find themselves taking multiple
medications to address a single deficit, thereby accumulating side effects, perpetuating unresolved symptoms,
and increasing suffering. Basic science research in this field has also suffered from neglect due mostly to the
lack of validated databases and epidemiological information on these conditions. There is, therefore, a need to
create a smart online platform for all neurometabolic diseases that is accessible to anyone, easy to use, and
user friendly. We will focus the first version of the platform on physicians and scientists. There are three reasons
for it: firstly, the platform will fulfil an area of unmet need in terms of understanding, patient management, and
research in these conditions. Secondly, doctors and scientists will be able to contribute to the development,
curation, and expansion of the database. And thirdly, targeting this user group is feasible within the time and
financial support of the R03. To develop this platform, we propose two aims: (1) the development of a
comprehensive database that includes clinical, biochemical, radiological, and therapeutic data on all known
neurometabolic diseases; and (2) the creation of an intuitive, clinically oriented web application. Our
multidisciplinary team comprises experts in clinical neurometabolism, chemical analysis, bioinformatics, and
software engineering, who have already developed a suite of 16 web applications for neurometabolic and clinical
data analysis. These tools are part of our Neurometabolomics & Neuroinformatics Core at the Icahn School of
Medicine at Mount Sinai. This initiative is poised to significantly enhance understanding, clinical management,
and mechanistic insight into neurometabolic diseases. Its innovative nature lies in its status as the first
comprehensive, open-source, and intuitive online infrastructure dedicated exclusively to these conditions. The
platform's ...

## Key facts

- **NIH application ID:** 11058036
- **Project number:** 1R03NS137124-01A1
- **Recipient organization:** ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- **Principal Investigator:** Isaac Marin-Valencia
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $169,000
- **Award type:** 1
- **Project period:** 2024-09-21 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11058036

## Citation

> US National Institutes of Health, RePORTER application 11058036, Universal Database for Neurometabolic Diseases (1R03NS137124-01A1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/11058036. Licensed CC0.

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