The Ryr-1 Foundation

THE MISSION OF THE RYR-1 FOUNDATION IS TO SUPPORT RESEARCH LEADING TO AN EFFECTIVE TREATMENT OR A CURE FOR RYR-1-RELATED DISEASES THROUGH SUPPORTING RESEARCH, PHYSICIAN EDUCATION, AND PATIENT & FAMILY SUPPORT AND ADVOCACY.

RESEARCH GRANTS - THE FOUNDATION MAKES GRANTS TO RESEARCHERS INTERESTED IN RYR-1-RELATED DISESES (RYR-1-RD). AS THE ONLY ORGANIZATION SOLELY DEDICATED TO RYR-1-RD, WE PROMOTE RESEARCH IN THIS AREA.

PATIENT OUTREACH AND EDUCATION - THE FOUNDATION RAISES AWARENESS THROUGH RESOURCES ON ITS WEBSITE, INCLUDING THE LATEST MEDICAL LITERATURE, AS WELL AS DIRECT MEETINGS WITH PHYSICIANS AROUND THE WORLD. THE FOUNDATION SERVES AS A RESOURCE FOR PATIENTS AND THEIR FAMILIES THROUGH ITS WEBSITE, OTHER FORMS OF SOCIAL MEDIA, AND FAMILY CONFERENCES.

CLINICAL CARE GUIDELINES: WHAT PATIENTS & FAMILIES NEED TO KNOW ABOUT RYR-1-RELATED DISEASES - THE RYR-1 FOUNDATION PUBLISHED THE CLINICAL CARE GUIDELINES (CCG) IN FALL 2020. THIS HANDBOOK, MADE POSSIBLE BY A $50,000 GRANT FROM THE OSCAR AND ELSA MAYER FAMILY FOUNDATION, WAS WRITTEN EXCLUSIVELY FOR INDIVIDUALS AND FAMILIES AFFECTED BY RYR-1-RELATED DISEASES. THE CCG HAS NOW BEEN PUBLISHED BY THE RYR-1 FOUNDATION IN THE FOLLOWING LANGUAGES: ARABIC, CHINESE (SIMPLIFIED), ENGLISH, FRENCH, GERMAN, RUSSIAN, SPANISH, AND VIETNAMESE. WE CONSIDER THE RYR-1 FOUNDATION TO BE AN INTERNATIONAL ORGANIZATION WITH A MISSION TO HELP ALL AFFECTED INDIVIDUALS AND FAMILIES, ESPECIALLY THOSE IN UNDERSERVED COMMUNITIES. AS FUNDS BECOME AVAILABLE, WE LOOK FORWARD TO TRANSLATING THE CCG INTO ADDITIONAL LANGUAGES.

SCIENTIFIC MEETINGS - THE RYR-1-RELATED DISEASE (RYR-1-RD) IS A RARE, INHERITED, CONGENITAL MYOPATHY THAT AFFECTS APPROXIMATELY 1/90,000 INDIVIDUALS. LIKE MANY ORPHAN DISEASES," THERE ARE A LIMITED NUMBER OF RESEARCHERS STUDYING THIS CONDITION. FURTHER, THERE ARE NO REGULARLY OCCURRING MEETINGS THAT SPECIFICALLY ADDRESS RYR-1-RD. SCIENTIFIC MEETINGS FOCUSED ON AN ORPHAN DISEASE, SUCH AS RYR-1-RD, SERVE SEVERAL PURPOSES: 1) TO DISSEMINATE NEW KNOWLEDGE TO LEADERS IN THE FIELD OF RYR-1-RD; 2) TO PROVIDE A FORUM FOR FUNDED RESEARCHERS TO RECEIVE CRITICAL REVIEWS AND SUGGESTIONS FOR IMPROVEMENTS; 3) TO ALLOW THE RYR-1 FOUNDATION TO ASSESS THE QUALITY OF THE RESEARCH IN A "GIVE AND TAKE" ENVIRONMENT; AND 4) TO ENCOURAGE MEDICAL/RESEARCH TRAINEES TO PURSUE A CAREER IN RYR-1-RD. THE RYR-1 FOUNDATION HAS HOSTED ELEVEN, ONE-DAY SCIENTIFIC MEETINGS OVER THE PAST SIX YEARS. PARTICIPANTS IN THESE MEETINGS INCLUDE MEMBERS OF THE RYR-1 FOUNDATION'S SCIENTIFIC ADVISORY BOARD (SAB), RESEARCHERS RECEIVING FUNDING FROM THE RYR-1 FOUNDATION, AND REPRESENTATIVES FROM THE CLINICAL, RESEARCH, AND PATIENT ADVOCACY COMMUNITIES. THE FOCUS OF THESE MEETINGS IS TO DISSEMINATE RESEARCH FINDINGS FROM RECIPIENTS OF RYR-1 FOUNDATION GRANTS. IN THIS SETTING, THE RESEARCHERS RECEIVE FEEDBACK FROM THE SAB; THIS DETERMINES IF THE RESEARCHERS HAVE MET THEIR MILESTONES IN ORDER TO RECEIVE ADDITIONAL FUNDING. IN ADDITION TO FUNDED RESEARCHERS, NON-FUNDED INVESTIGATORS WHO HAVE IMPORTANT INSIGHTS ARE INVITED TO SPEAK. TIME IS ALSO DEVOTED TO STRATEGIC PLANNING FOR FUTURE RESEARCH PRIORITIES AND FUNDING. PERHAPS MOST IMPORTANTLY, THESE MEETINGS PROVIDE A FORUM FOR RESEARCHERS FROM AROUND THE WORLD TO SHARE IDEAS AND DEVELOP PLANS FOR FUTURE COLLABORATIONS.RESEARCH WORKSHOPS- THE PATIENT-LED INTERNATIONAL RESEARCH WORKSHOP IS DEVOTED EXCLUSIVELY TO RYR-1-RELATED DISEASES, PRECEDING THE 2022 RYR-1 INTERNATIONAL FAMILY CONFERENCE. THIS WORKSHOP WILL PROVIDE A MUCH-NEEDED FORUM FOR THE LEADING INTERNATIONAL RYR-1 EXPERTS AND A GROUP OF AFFECTED INDIVIDUALS TO SHARE KNOWLEDGE, EXCHANGE IDEAS, FORM COLLABORATIONS, AND DEVELOP NEW STRATEGIES FOR FINDING THERAPIES. THE WORKSHOP ORGANIZING COMMITTEE INCLUDES A DIVERSE GROUP OF RESEARCHERS/CLINICIANS IN RYR-1-RD, MEMBERS OF THE RYR-1 FOUNDATION'S SAB, AND RYR-1-RELATED COMMUNITY REPRESENTATIVES.