Jain Foundation Inc

WHILE THE FOCUS OF THE JAIN FOUNDATION IS DYSFERLINOPATHY (LGMD2B/R2/MIYOSHI MYOPATHY1), THE RESULTING SCIENTIFIC ADVANCES AND COLLABORATIONS THAT WE MAKE HAVE A BROADER IMPACT ON HUMAN HEALTH THROUGH THEIR RELEVANCE TO OTHER MUSCLE DISORDERS, DEGENERATIVE DISEASES, AND NORMAL AGING. THE FOUNDATION TAKES A HANDS-ON APPROACH TO FUNDING. WE CLOSELY MONITOR THE PROGRESS OF EVERY PROJECT WE FUND AND KEEP TRACK OF RESULTS AND SHIFTING TIMELINES THROUGH QUARTERLY CONFERENCE CALLS WITH RESEARCHERS AND SITE VISITS. WE ALSO SUPPORT INTERNAL PROGRAMS AND INITIATIVES. OUR GOAL IS TO FUND ALL POSSIBLE APPROACHES TO A CURE AND HELP WITH PATIENT DIAGNOSIS TO ENSURE THAT TREATMENTS REACH THOSE WHO NEED THEM.

CONTRACT RESEARCH ORGANIZATIONS ($113,620): IN 2022, WE CONTINUED WORKING WITH CONTRACT RESEARCH ORGANIZATIONS (CROS) AS AN INTEGRAL PART OF OUR THERAPY DEVELOPMENT PROGRAM. CROS ARE COMPANIES THAT SERVE THE DRUG DEVELOPMENT INDUSTRY AND PROVIDE SPECIALIZED KNOWLEDGE AND INFRASTRUCTURE FOCUSED ON DRUG DISCOVERY, SUCH AS ROBOTICS AND LARGE COMPOUND LIBRARIES. THERE ARE MANY DRUGS IN DEVELOPMENT (SOME EVEN FDA APPROVED) FOR OTHER DISEASES THAT MAY BE USEFUL IN DYSFERLINOPATHY. TO EVALUATE THEIR BENEFIT IN DYSFERLINOPATHY, WE NEED SPECIFIC ASSAYS THAT PREDICT THEIR EFFECTS IN OUR DISEASE. THE PROCESS OF DEVELOPING ASSAYS IS TEDIOUS, TIME CONSUMING AND DIFFICULT TO PUBLISH, MAKING THEM UNSUITABLE FOR RESEARCHERS AT ACADEMIC INSTITUTIONS. OUR STRATEGY IS TO LEARN ABOUT DYSFERLIN IN ACADEMIC LABORATORIES AND THEN APPLY WHAT WE LEARN TO THE DEVELOPMENT OF ASSAYS AND EVALUATE DRUGS AT CROS. CRO PROJECTS ARE COMPLETED AT A MUCH FASTER PACE THAN ACADEMIC PROJECTS, BECAUSE THERE IS MORE FOCUSED E

CLINICAL TRIAL READINESS AND COMMUNITY ENGAGEMENT ($295,252): DYSFERLINOPATHY IS VERY RARE. AN IMPORTANT GOAL OF THE JAIN FOUNDATION IS TO PREPARE THE DYSFERLINOPATHY PATIENT COMMUNITY FOR CLINICAL TRIALS. THERE ARE MANY ASPECTS TO BEING CLINICAL TRIAL READY, INCLUDING PATIENT IDENTIFICATION, COMMUNITY ENGAGEMENT, PATIENT EDUCATION, AND IDENTIFICATION OF OUTCOME MEASURES. FOR PATIENT IDENTIFICATION WE HAVE A PATIENT REGISTRY CALLED THE DYSFERLIN REGISTRY THAT CONTAINS 1155+ INDIVIDUALS VERIFIED TO HAVE DYSFERLINOPATHY. IN ADDITION, WE HAVE A DIAGNOSIS PIPELINE THAT PROVIDES ACCESS TO GENETIC TESTING FOR THOSE WHO NEED IT AND ENSURES THAT BARRIERS TO GENETIC TESTING DONT PREVENT PEOPLE WITH DYSFERLINOPATHY FROM ACCESSING THE DYSFERLIN REGISTRY. IN 2022, WE ADDED 161 DYSFERLINOPATHY PATIENTS TO THE REGISTRY, WHICH IS A 140% INCREASE FROM 2021. COMMUNITY ENGAGEMENT AND EDUCATION INCLUDES INTERACTIONS WITH THE PATIENT COMMUNITY, CLINICIANS, LGMD ADVOCACY GROUPS, INDUSTRY AND THE FDA. OUR P

TOOLS FOR RESEARCHERS ($202,102): THE JAIN FOUNDATION CONTINUES TO ACTIVELY IDENTIFY AND FUND THE DEVELOPMENT OF RESEARCH TOOLS AND RESOURCES NEEDED TO ADVANCE THE DYSFERLIN FIELD. THE JAIN FOUNDATION IS COMMITTED TO DEVELOPING AND PROVIDING FREQUENTLY REQUIRED REAGENTS, THE AVAILABILITY OF WHICH HELPS ACCELERATE RESEARCH. WE CONTRIBUTED DYSFERLIN DNA TO PUBLIC REPOSITORIES AND HAVE HELPED COMPANIES DEVELOP ANTIBODIES TO DYSFERLIN SO THAT THEY CAN BE EASILY OBTAINED. WE BUILT A LIBRARY OF CELL LINES THAT ARE USEFUL TO STUDY DYSFERLIN DEFICIENCY. WE CONTINUE TO MAINTAIN LARGE COLONIES OF MICE AT THE CUSTOM MOUSE BREEDING FACILITY AT JACKSON LABORATORIES (MAINE, USA) FOR USE IN DYSFERLIN RESEARCH. INFORMATION ABOUT THESE RESOURCES IS DISSEMINATED TO RESEARCHERS THROUGH E-MAILS AND THROUGH THE FOUNDATIONS WEBSITE. IN 2022 OUR EFFORTS MAINLY FOCUSED ON DEVELOPING A NEW DYSFERLIN DEFICIENT MOUSE MODEL THAT WILL BE USED FOR EVALUATING SPECIFIC THERAPEUTIC INTERVENTIONS USING CRISPR TECHNOLOG