# A global matchmaking platform for collaborative research on rare and undiagnosed diseases

> **NIH NIH U54** · BAYLOR COLLEGE OF MEDICINE · 2020 · $149,991

## Abstract

Administrative Supplement Request for U54NS093793 based on PA-18-591
https://grants.nih.gov/grants/guide/pa-files/PA-18-591.html
Title: A global matchmaking platform for collaborative research on rare and undiagnosed diseases
Project Summary: Rare disease patients often experience painstaking diagnostic and therapeutic odysseys.
State-of-the-art genome sequencing technologies may provide answers for ~30-40% of these cases, but many
are often left with a handful of candidate genetic variants that require experimental follow-up studies to
establish causality. In this proposal, we will build a centralized website and database called ModelMatcher
(https://www.modelmatcher.net/) that can be used by clinicians and other stakeholders of undiagnosed disease
research (e.g. patients, family members, patient organizations, funding agencies, pharma) to identify basic
scientists who are interested in collaborations to facilitate diagnostic, translational and therapeutic research to
support the mission of the Undiagnosed Diseases Network and beyond. Basic scientists can register their
information regarding their contact, experimental systems used in their labs, areas of expertise, and
genes/pathways of interest in ModelMatcher, and clinical users can mine this database to identify experts who
can perform functional studies on disease candidate variants identified in patients’ genomic DNA. Such
registries can also be useful for other stakeholders of rare disease research to identify a group of scientists
who are willing to work collaboratively on translational and therapeutic research for a specific rare disease that
does not have efficient treatments. Besides sparking studies of specific genes and diseases, this first-of-its-
kind global registry of scientists with diverse expertise linked to medical genetics databases will create an
unprecedented opportunity to build strong collaborative networks and initiatives far beyond what we envision.

## Key facts

- **NIH application ID:** 10124600
- **Project number:** 3U54NS093793-06S1
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** HUGO J BELLEN
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $149,991
- **Award type:** 3
- **Project period:** 2015-09-15 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10124600

## Citation

> US National Institutes of Health, RePORTER application 10124600, A global matchmaking platform for collaborative research on rare and undiagnosed diseases (3U54NS093793-06S1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10124600. Licensed CC0.

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