# Comprehensive gene and DNA variant curation for neuromuscular diseases

> **NIH NIH U24** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2021 · $381,704

## Abstract

Project Summary/Abstract
Neuromuscular diseases are amongst the most common rare diseases and also are characterized by
unparalleled locus and allele heterogeneity. In fact, the full extent of the gene and variant spectrum is still unclear
with 30-50% of patients with these diseases no receiving genetic diagnosis after large panel and exome
sequencing. A sizable part of this diagnostic gap can be attributed to Variants of Uncertain Significance (VUS).
A number of initiatives are aimed at reducing the diagnostic gap; mainly these are research studies to identify
new genetic loci and alleles and variant curation efforts provide high quality, standardized guidance on
pathogenicity for known genes and variants. Here we describe the goals of the recently established ClinGen
Neuromuscular Clinical Domain Working Group (NMD CDWG), its executive committee, and the proposed
GCEP and new VCEP for three major NMD disease groups comprising 197 genes and over 10,000 variants. We
aim to eventually curate the majority of genes causing inherited peripheral neuropathies, muscular dystrophies,
and congenital myopathies. A rigorous curation effort, acknowledges by FDA, will be the basis of upcoming gene
therapies targeting neuromuscular and related diseases.

## Key facts

- **NIH application ID:** 10173170
- **Project number:** 1U24NS120858-01
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** Ozge  Birsoy
- **Activity code:** U24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $381,704
- **Award type:** 1
- **Project period:** 2021-06-15 → 2024-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10173170

## Citation

> US National Institutes of Health, RePORTER application 10173170, Comprehensive gene and DNA variant curation for neuromuscular diseases (1U24NS120858-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10173170. Licensed CC0.

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