# RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments

> **NIH NIH R13** · THE RYR-1 FOUNDATION · 2022 · $15,000

## Abstract

This is a proposal for partial support of the “RYR-1-Related Diseases International Research Workshop: From
Mechanisms to Treatments” to be held in Pittsburgh, PA from July 21 – July 22, 2022. The program was
developed by an Executive Organizing Committee consisting of RYR-1-related disease patients/advocates and
internationally-recognized leaders in the clinical care and basic research of RYR-1-related diseases.
The workshop will consist of 54 in-person participants, including 18 expert clinical/research speakers, six
discussion leaders, 13 invited patient speakers, and 17 additional participants (including at least five
trainees/young investigators). The workshop sessions will focus on: 1) Patient Testimonials, 2) Phenotypic
Variability, 3) RYR-1 Variant Classification, 4) Drug Development and Validation, 5) Prevalence and Natural
History Studies, 6) Disease Mechanisms, 7) Therapeutic Pipeline, and 8) RYR-1 Clinical Trials. An important
innovative aspect of the program is that each day will have patient-led sessions focusing on patient/family
testimonials, challenges, successes, needs, and recommendations. The patient-led sessions are designed to
help clinicians/researchers better appreciate the patient perspective, while also providing patients and family
members an opportunity to interact directly with clinicians and researchers in the RYR-1-related disease field.
All conferees will be encouraged to attend the two-day RYR-1 International Family Conference held on the days
immediately following the workshop. The two previous family meetings included 388 attendees, representing 75
RYR-1-affected families from 31 states and eight countries and an even larger turnout is expected in 2022.
The three overarching objectives of the workshop are: Objective 1: To provide a forum that unites leading
international RYR-1 disease experts (researchers, clinicians, and geneticists) with affected individuals, family
members, and patient advocates to share knowledge, exchange ideas, form collaborations, and develop new
strategies for finding effective therapies. Objective 2: To establish a list of clinical and research priorities, as
well as actionable recommendations needed to move the field forward. Objective 3: To enable trainees,
including students, postdoctoral fellows, and junior investigators, opportunities to interact and network with
leaders in the field and patients with RYR-1-related disease, as well as participate in the generation of a
publication that summarizes workshop proceedings and consensus recommendations.
Participants will include patients, family members, clinicians, and basic scientists that span across ages, races,
ethnicities, genders, physical abilities, career stages, nationalities, and geographical locations. Our aims are to
promote: 1) open dialogue among stakeholders, 2) engagement and exposure of promising young investigators
in the field, and 3) advances that accelerate the development of new and effective therapies. These objec...

## Key facts

- **NIH application ID:** 10531507
- **Project number:** 1R13AR081619-01
- **Recipient organization:** THE RYR-1 FOUNDATION
- **Principal Investigator:** Robert T Dirksen
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $15,000
- **Award type:** 1
- **Project period:** 2022-07-15 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10531507

## Citation

> US National Institutes of Health, RePORTER application 10531507, RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments (1R13AR081619-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10531507. Licensed CC0.

---

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