# Resources Core

> **NIH NIH P50** · UNIVERSITY OF ROCHESTER · 2022 · $222,455

## Abstract

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) have multisystem
complications that are serious, progressive, and often disabling. Recent advances in understanding the
mechanisms of DM have guided the development of experimental therapies. There is now renewed urgency to
enhance the translational resources that are needed to facilitate current and future clinical trials. To help
achieve these goals, we propose to sustain and enhance the resources of the oldest and most comprehensive
Registry for patients with myotonic dystrophy type 1 (DM1), type 2 (DM2), and FSHD. The main goals of the
Registry are to assist researchers in the recruitment of patients for clinical studies and trials, to develop an
extensive database of longitudinal patient information, and to promote community outreach with patients and
family members to increase awareness, communication, and participation in the research process. In parallel,
to help researchers understand what matters most to patients. Overall, the Registry has functioned effectively
up to now, but we are proposing several changes to make it more effective in the future. First, we will begin the
process of incorporating genetic diagnosis into Registry participation, with the goal of providing genetic
confirmation for FSHD patients who do not presently have it (approximately half of FSHD Registry members).
Second, we will establish capability for online data collection, using methods that protect patient
confidentiality. Third, we will establish telemedicine links with a group of Registry participants, for targeted
data collection at a distance. This will expand opportunities for patients anywhere to take part in studies, and
improve the quality and scope of data in the Registry. As a corollary, we will examine validity of data collected
through telemedicine study visits. Another goal of our Shared Resource Core is to improve access to key models
of DM1 and DM2, through distribution of mouse models that are useful for preclinical drug development, in a
way that minimizes lead-time for performing drug-discovery experiments. Overall, the Shared Resource Core
will be serve the needs of researchers in our Center, the larger community of investigators who study autosomal
dominant forms of muscular dystrophy, and the patients and families who live with these disorders.

## Key facts

- **NIH application ID:** 10480093
- **Project number:** 5P50NS048843-20
- **Recipient organization:** UNIVERSITY OF ROCHESTER
- **Principal Investigator:** RABI TAWIL
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $222,455
- **Award type:** 5
- **Project period:** 2003-09-30 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10480093

## Citation

> US National Institutes of Health, RePORTER application 10480093, Resources Core (5P50NS048843-20). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10480093. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*