The RYR1 Foundation

General information about the RYR-1 Foundation

The Pittsburgh, Pennsylvania-based public charity was launched in October 2014 by members of the Goldberg family, who have been affected by RYR-1 muscle disease. It is currently the only organization that exists solely to advocate for and serve the needs of patients with RYR-1 myopathy, the most common cause of congenital myopathy. The mission of the RYR-1Foundation is to support research leading to effective treatment or a cure for RYR-1 related diseases, to educate physicians about these diseases, and to provide patient/family support and advocacy. The RYR-1 Foundation is a public charity, designated as a 501(c)(3) by the IRS. To learn more about the RYR-1 Foundation, please go to: www.RYR1.org .

Selected achievements of the RYR1-foundation:

  1. Genetic Testing: The Foundation has covered the costs of genetic tests for families in financial need
    who were thought possibly to have RYR-1 muscle disease. Without confirmation by
    genetic testing, these patients would not be eligible for the current NIH clinical trial of NAC.

    requirements:

    1) The patient to be in a registry (CMDIR or ours http://www.ryr1.org/#!join-the-registry/cppo)
    2) Clinical findings suggestive of RYR-1 (assessed by neurologist who is familiar with RYR-1)
    3) A muscle biopsy with findings consistent with RYR-1
    4) Willingness of the patient to participate in RYR-1 related clinical trials.

 

  1. Gordon Research Conference:
    The Foundation co-sponsored the annual Gordon Research Conference in Maine on May 31-June 5.
    This distinguished scientific meeting was devoted this year to the topic of calcium metabolism and muscle excitability. These issues are critical to a better understanding of RYR-1 muscle disease. Over 170 scientists from around the world
    participated in this outstanding meeting, led by Dr. Robert Dirksen, a member of our world-class Scientific Advisory Board. Other members of our SAB, Dr. James
    Dowling and Dr. Jerome Parness, were active participants. Dr. Morton Goldberg, Foundation trustee, also attended.

  1. International RYR-1 Research Meeting:
    The Foundation will be the primary sponsor of an RYR-1 Workshop in January 2016 at the European Neuromuscular Centre in Naarden, Netherlands. This will be a 3 day meeting with 20-30 of the world’s leading experts in RYR-1 muscle disease.
    The RYR-1 Foundation initially proposed the idea for this meeting, and we are defraying the travel and registration costs for all non-European participants.
    This is the only RYR-1 focused research meeting in the world.

  1. Mouse model: The Foundation will be funding the development of a mouse strain that carries
    mutations for RYR-1 muscle disease. Having this “line” of mice will be critical for developing a better understanding of the disease and for the testing of potential Treatments.

  1. Patient Outreach: Patient outreach is a critical function of our Foundation, as many patients and families with RYR-1 often feel isolated and anxious because of a lack of resources and
    lack of access to physicians who are knowledgeable about RYR-1. Our website currently lists the contact information of 24 RYR-1 experts from six different countries. We are in
    the planning stages of a Patient and Family Meeting for the Summer 2016.

  1. Social Media:
    Our website has been viewed by over 4,100 users in 83 countries. Announcements on the Foundation’s Facebook page have reached over 15,000 individuals. Social
    media has been an essential tool for establishing relationships among the Foundation and patients/families.

  1. Networking with other muscle organizations: The
    Foundation is in frequent conversations with leaders of
    other organizations devoted to rare muscle diseases in order to identify areas of potential collaboration.
  2. Supporting research: The Foundation recently distributed a grant application form. The Foundation will be distributing approximately $160,000 USD over the next two
    years to support research in the RYR-1 related myopathies.