# Dystonia Coalition- CRP 4

> **NIH NIH U54** · EMORY UNIVERSITY · 2022 · $156,900

## Abstract

ABSTRACT: During prior funding cycles, the Dystonia Coalition successfully developed a multicenter shared
biorepository for DNA specimens, in collaboration with the NINDS Human Genetic Resource at Coriell. Our
recruiting centers contributed DNA specimens from more than 3,000 patients with different types of dystonia,
along with detailed information on the clinical phenotype. The Dystonia Coalition has distributed more than
2,500 samples and Coriell has distributed more than 500 samples to other investigators. More than half of the
Dystonia Coalition DNA samples come from CD since that is the most common type of isolated dystonia. The
goals of this project are to 1) extend the value of the current DNA repository by targeting less well represented
subtypes of the isolated dystonias: LD, BSP and limb dystonia, as well as targeting multiplex families including
informative non-affected family members; 2) develop a centralized repository of additional blood-based
materials for future epigenetic, transcriptomic, proteomics, lipidomics, and metabolomics studies, 3) begin
exploratory studies to identify novel genetic and proteomic factors that characterize dystonia in general or
distinguish specific dystonia types, and 4) begin exploratory studies to identify genetic and proteomic factors
that influence spread of dystonia. We anticipate that collection of these material and data will facilitate clinical
and basic science studies of the pathogenesis of dystonia. An inherent strength of this application is the use of
standard and uniform protocols across all samples across multiple sites, reducing or eliminating the variability
present in many multisite studies.

## Key facts

- **NIH application ID:** 10468929
- **Project number:** 5U54NS116025-12
- **Recipient organization:** EMORY UNIVERSITY
- **Principal Investigator:** HYDER A JINNAH
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $156,900
- **Award type:** 5
- **Project period:** 2009-09-30 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10468929

## Citation

> US National Institutes of Health, RePORTER application 10468929, Dystonia Coalition- CRP 4 (5U54NS116025-12). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10468929. Licensed CC0.

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