2018: A Year in Review
January 8, 2019
“I personally thank God for the RYR-1 Foundation. Thank you for all of your work and help. My niece...is afflicted with this condition. [She] and her parents work hard to help raise money for this research. We pray someday for a treatment or, better yet, a cure!! Thank you from the bottom of our hearts!”
The above quotation portrays the positive effect that the RYR-1 Foundation has had on hundreds of individuals and families affected by RYR-1 myopathy, a congenital disease causing muscle impairment with different degrees of disability. Unfortunately, as of now, there are no treatments for this rare myopathy.
Due to the support of many generous donors and the hard work of many volunteers, the RYR-1 Foundation can cite a wide range of accomplishments in its brief four years of existence. These include:
The Second RYR-1 International Family Conference: The second RYR-1 International Family Conference took place this past July in Pittsburgh. With almost 200 attendees from 5 different countries and 16 expert speakers, the meeting was a huge success. New this year: The Conference was “live streamed” on the web so that people who were unable to attend in person could still participate in the meeting. To view a brief video overview of our Family Conferences, please go to: www.ryr1.org/conferences.
Rycals: Rycals, a class of drugs that has shown potential benefit in treating patients with RYR-1 muscle disease, received “Orphan Drug Designation” by the FDA in August 2018. This official status is granted by the FDA only to drugs that show promise in the treatment of rare or “orphan” diseases. I am proud that the RYR-1 Foundation played an important part in this process: In 2016, the RYR-1 Foundation awarded a research grant that evaluated the effect of Rycals on muscle biopsy samples taken from individuals with RYR-1 muscle disease. I am hopeful that a Rycal clinical trial in humans will begin in the near future.
Research: Since 2014, the RYR-1 Foundation has spent (or committed to) over $870,000 in research funding. Of that, $600,000 is funding current, ongoing research, and these projects are utilizing cutting-edge technology, including CRISPR/gene editing, to help us better understand the mechanisms of disease, and identify potential new therapies.
We continue to support bi-annual meetings of our Scientific Advisory Board (SAB), which serve as a forum for the leading minds in the field of RYR-1 research to meet, share data, and advance the field.
New this year: Our funded researchers developed multiple strains of mice that have muscle weakness due to mutations in the RYR-1 gene. Until now, the only RYR-1 mice that were available had only mild, if any, muscle weakness. These new, severely affected mice will serve as important components of future research.
Expansion of the Board of Trustees, Scientific Advisory Board (SAB), and Board of Advisors: Thanks to our many benefactors, the RYR-1 Foundation has been able to fund research that continues to expand in scope and sophistication. With this in mind, our Board of Trustees and I felt that it would be beneficial to expand our boards to help us guide not just our research funding, but all of our activities. New trustees include:
Allison Garrott Braswell, MS, EDS, Memphis, TN
Justin C. McArthur, MBBS, MPH, Neurologist-in-Chief, Johns Hopkins Hospital; Director of Johns Hopkins Department of Neurology
Donald J. Zack, MD, PhD, Guerrieri Family Professor of Genetic Engineering and Molecular Ophthalmology, Professor of Molecular Biology, Genetics, and Neuroscience, Johns Hopkins University
For more information on all members of the Board of Trustees, SAB, and Board of Advisors, please go to: www.ryr1.org/about.
Expanding our Mission: Symptoms related to abnormalities in the RYR-1 gene are not limited to muscle weakness. In fact, an increasing number of patients are contacting the RYR-1 Foundation with a wide range of medical problems, including severe muscle pain, muscle cramping, and a potentially fatal reaction to anesthesia called “malignant hyperthermia.” To better serve these patients, we have expanded our mission to serve these individuals and their families. Recently we have partnered with Cody Hodgson, a former star in the National Hockey League, to help raise awareness of the widening spectrum of RYR-1-related conditions. Cody was forced to retire from the NHL due to complications from RYR-1. To view a trailer of a documentary about Cody’s struggle with RYR-1, please go to: www.ryr1.org/cody.
Of course, none of these accomplishments would ever have been possible without our donors, board of trustees, and volunteers. So, thank you to everyone who helped! Many challenges and opportunities await, and I look forward to transforming our slogan, Strength In Numbers, into a reality.
P.S. Our extraordinary history is vividly portrayed in the following documentary: http://www.ryr1.org/documentary. We strongly encourage you to view it.