# Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish

> **NIH NIH U54** · BAYLOR COLLEGE OF MEDICINE · 2022 · $549,858

## Abstract

SUMMARY
This supplemental application for the BCM and U of Oregon MOSC proposes to continue to study
and characterize variants in genes that have been submitted by the clinical sites of the UDN during
phase II as well as anticipated new submissions in the coming year. We need to ensure that all
patients that have been accepted by the clinical sites are treated equally and have a fair chance of
being diagnosed. Hence, we will continue ongoing experiments on 32 genes in the fly MOSC and 12
genes in the fish MOSC submitted in phase I and II. We have already gathered data that suggest that
many of these variants may be causative and the goal is now to obtain more compelling evidence that
they are indeed the cause of disease and to publish the data in collaboration with the UDN sites.
Based on previous experience, numerous cases are being diagnosed world-wide after we publish our
work and well over 200 patients with rare diseases have benefited from our publications. Completing
ongoing cases and anticipated new cases will require a very significant amount of resources and
work at both sites. The work is so substantial that requested resources will need to be complemented
with funding from private donors as well as institutional support. Given the considerable documented
time lag between sequencing and submission to the MOSCs, we anticipate that many cases that will
be submitted in the next year by the clinical sites will be cases that were accepted in phase I and II.
We will accept many of these cases if we think we can model them in a timely fashion, even if this will
exceed the funding period and we will therefore seek support from other sources

## Key facts

- **NIH application ID:** 10600181
- **Project number:** 3U54NS093793-07S2
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** HUGO J BELLEN
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $549,858
- **Award type:** 3
- **Project period:** 2022-04-02 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10600181

## Citation

> US National Institutes of Health, RePORTER application 10600181, Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish (3U54NS093793-07S2). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10600181. Licensed CC0.

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