The Progeria Research Foundation Inc

PROGERIN AS A BIOMARKER FOR HUTCHINSON-GILFORD PROGERIA SYNDROME

THE PROGERIA RESEARCH FOUNDATION 12TH ANNUAL INTERNATIONAL SCIENTIFIC WORKSHOP: COMING OF AGE - PROGERIA RESEARCH REACHING FOR THE CURE - THE PROGERIA RESEARCH FOUNDATION 12TH ANNUAL INTERNATIONAL SCIENTIFIC WORKSHOP: COMING OF AGE – PROGERIA RESEARCH REACHING FOR THE CURE ABSTRACT OVERVIEW: HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS OR PROGERIA) IS AN ULTRARARE, FATAL, GENETIC PREMATURE AGING DISEASE CAUSED BY PROGERIN, A TOXIC PROTEIN GENERATED BY A SPLICE SITE-GENERATING MUTATION IN THE LMNA GENE. CHILDREN AND YOUNG ADULTS DIE FROM HEART FAILURE THAT IS CONSEQUENT TO PREMATURE, PROGRESSIVE ATHEROSCLEROSIS. THE PROGERIA RESEARCH FOUNDATION’S (PRF’S) MISSION IS TO FIND TREATMENTS AND THE CURE FOR PROGERIA AND ITS AGING-RELATED DISORDERS, INCLUDING CARDIOVASCULAR DISEASE (CVD). PRF’S 12TH INTERNATIONAL SCIENTIFIC WORKSHOP ON PROGERIA WILL BE HELD IN CAMBRIDGE, MA ON OCTOBER 29-31, 2025. ALL PRIOR PRF WORKSHOPS WERE CO-FUNDED BY THE NATIONAL INSTITUTES OF HEALTH, A STRONG PARTNER IN AGING AND RARE DISEASE RESEARCH. AS MORE CHILDREN WITH PROGERIA LIVE TO THEIR LATE TEENS AND EARLY 20S DUE TO PROGERIA’S FIRST FDA-APPROVED TREATMENT, THE SCIENTIFIC AND PATIENT COMMUNITIES ARE READY TO GALVANIZE AROUND ACHIEVING EVEN HEALTHIER, LONGER LIVES FOR THESE PATIENTS THROUGH TRANSLATIONAL RESEARCH. OBJECTIVES: TO CREATE AN IDEAL ENVIRONMENT FOR COLLABORATIVE INTERACTIONS BETWEEN BASIC AND CLINICAL SCIENTISTS AROUND HOW THEIR COLLECTIVE EXPERIENCE CAN ACCELERATE RESEARCH FOR PROGERIA, CVD AND AGING; TO FOSTER YOUNG SCIENTISTS WHO REPRESENT THE FUTURE OF PROGERIA RESEARCH; TO SUPPORT A DIVERSE PROGERIA COMMUNITY; AND TO PLAN FUTURE ACTIVITIES TOWARDS BETTER HEALTH AND LONGER LIFESPANS FOR THOSE WITH PROGERIA AND FOR THE GENERAL AGING POPULATION. PROGRAM: THE OPENING EVENING SESSION WILL BE LED BY 5 YOUNG ADULTS WITH PROGERIA WHOSE LIVES BEGAN WITH NO IDENTIFIED GENETIC CAUSE, NO TREATMENTS, AND NO HOPE, BUT WHO NOW HAVE ALL THESE THINGS. THEY’LL SHARE THEIR LIFELONG JOURNEYS AS PARTNERS IN PROGERIA RESEARCH SUCCESS. DAY 2 STARTS WITH HIGH TRANSLATIONAL IMPACT. DRS. MONICA KLEINMAN AND LESLIE GORDON WILL REPORT ON NEW CLINICAL TRIALS (THE ONLY ACTIVE PROGERIA TRIALS IN THE WORLD) USING PROGERIN-TARGETED SMALL MOLECULES. THIS IS FOLLOWED BY DATA- RICH BASIC AND CLINICAL CARDIOVASCULAR PRESENTATIONS THAT, TOGETHER, WILL HELP US UNDERSTAND WHICH CELL TYPES SHOULD BE PRIORITY TARGETS FOR TREATMENT. FINALLY, JUNIOR INVESTIGATORS TAKE THE STAGE FOR LIGHTENING ROUND, 1-MINUTE INTRODUCTIONS TO THE POSTERS THEY WILL PRESENT DURING THE EVENING SESSION. DAY 3 STARTS WITH A SUNRISE COFFEE HOUR WHERE PATIENTS AND THEIR FAMILIES WILL SIT AT VARIOUS TABLES AND INSPIRE MEETING ATTENDEES IN A SMALL GROUP SETTING. FUTURE INTERVENTIONS THEN TAKE THE STAGE, WITH 4 UPSTREAM TREATMENT STRATEGIES IN DEVELOPMENT: 1 PROGERIN- TARGETED SMALL MOLECULE, 2 CLASSES OF RNA-BASED THERAPY, AND FINALLY, PRECISE BASE EDITING THAT COULD ONE DAY PERMANENTLY CORRECT THE LMNA MUTATIONS AND CURE PROGERIA. GENE THERAPY PIONEER DR. DAVID LIU AND FORMER NIH DIRECTOR DR. FRANCIS S. COLLINS HAVE TEAMED UP WITH PRF TO BRING IN VIVO HGPS GENE CORRECTION TO THE CLINIC. THE WORKSHOP WRAPS UP WITH A SUMMARY SESSION WHERE OUR NEWLY INVIGORATED “PROGERIA RESEARCH FAMILY” SHARES KEY LEARNINGS AND CREATES A PROGERIA-AGING-CVD ACTION PLAN. WE ESTIMATE 200 ATTENDEES AND 20-30 POSTERS. CONCLUSION: COLLEGIAL INTERACTIONS ALONG WITH OUTSTANDING SCIENCE PRESENTED AT THIS MEETING WILL GENERATE THE NEXT WAVE OF TRANSLATIONAL DISCOVERY FOR PROGERIA, ATHEROSCLEROSIS OF AGING.

THE PROGERIA RESEARCH FOUNDATION 10TH INTERNATIONAL SCIENTIFIC WORKSHOP, "RESEARCHING POSSIBILITIES, EXTENDING LIVES" - OVERVIEW: HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS OR PROGERIA) IS A RARE, FATAL SEGMENTAL PREMATURE AGING DISEASE CAUSED BY A SPLICE SITE MUTATION IN THE LMNA GENE. CHILDREN WITH PROGERIA DIE FROM HEART ATTACKS OR STROKES AT AN AVERAGE AGE OF 14.6 YEARS FOLLOWING PREMATURE, PROGRESSIVE ATHEROSCLEROSIS. THE MISSION OF THE PROGERIA RESEARCH FOUNDATION (PRF) IS TO FIND TREATMENTS AND THE CURE FOR PROGERIA AND ITS AGING-RELATED DISORDERS, INCLUDING CARDIOVASCULAR DISEASE (CVD). THE UPCOMING PRF 10TH INTERNATIONAL SCIENTIFIC WORKSHOP ON PROGERIA WILL BE HELD IN CAMBRIDGE, MA ON NOVEMBER 2-4, 2020. ALL PRIOR PRF WORKSHOPS WERE CO-FUNDED BY THE NATIONAL INSTITUTES OF HEALTH. WITH RECORD-HIGH NUMBERS OF BOTH PEER-REVIEWED PUBLICATIONS ON PROGERIA AND REQUESTS FOR CELL LINES FROM THE PRF CELL AND TISSUE BANK FOR PRECLINICAL EXPLORATIONS, AS WELL AS FIRST-EVER SUBMISSIONS TO THE FDA FOR BOTH DRUG APPROVAL AND A DISEASE BIOMARKER, THIS FIELD OF STUDY IS ON THE VERGE OF MAJOR ADVANCEMENTS. OBJECTIVES: TO CREATE AN IDEAL ENVIRONMENT FOR COLLABORATIVE DISCUSSION BETWEEN BASIC AND CLINICAL SCIENTISTS ABOUT HOW THEIR COLLECTIVE EXPERIENCE WITH PROGERIA CAN ACCELERATE SCIENTIFIC PROGRESS FOR PROGERIA, CVD AND AGING; TO COORDINATE RESEARCH ACTIVITIES; AND TO DEVELOP FUTURE ACTIVITIES IN THESE FIELDS TOWARDS BETTER HEALTH FOR THOSE WITH PROGERIA AND FOR THE GENERAL AGING POPULATION. PROGRAM: THE MEETING STARTS WITH AN INSPIRING EVENING SESSION. PROGERIA CLINICAL TRIAL PATIENTS, ALONG WITH THEIR PARENTS, WILL SHARE THEIR EXPERIENCES, FEELINGS, AND EXTRAORDINARY PERSONALITIES WITH THE SCIENTIFIC AUDIENCE. THIS IS FOLLOWED BY A PLENARY PRESENTATION BY PIONEER DAVID LIU, PHD (BROAD INST.), WHO WILL USHER THE ATTENDEES INTO THE WORLD OF GENETIC EDITING AND ITS ENDLESS POSSIBILITIES FOR APPLICATION TO PROGERIA, CVD AND AGING. DAY 2 WILL START WITH CRITICAL EMERGING PROGERIA MODEL SYSTEMS AND DISEASE BIOMARKERS, FOLLOWED BY AN INTEGRATED BASIC AND CLINICAL CARDIO/NEUROVASCULAR PANEL SESSION. PEPPERED THROUGHOUT THE PROGRAM ARE SEASONED HGPS, CVD AND AGING EXPERTS, MIXED WITH JUNIOR INVESTIGATORS WHO WILL UNDOUBTEDLY LEAD THIS FIELD OVER THE COMING DECADE. ON DAY 3, AN EARLY MORNING “COFFEE TALK” SESSION WILL SEE JUNIOR INVESTIGATORS AND STUDENTS RECEIVING MENTORSHIP FROM WORLD EXPERTS. NEXT, DATA ON THE ONLY ACTIVE PROGERIA CLINICAL TRIALS WORLDWIDE WILL BE PRESENTED. FUTURE INTERVENTIONS THEN TAKE THE STAGE, WITH NEW DATA FROM PRESTIGIOUS INVESTIGATORS SUCH AS NIH DIRECTOR FRANCIS S. COLLINS, MD, PHD AND NCI DISTINGUISHED INVESTIGATOR TOM MISTELI, PHD ON RNA AND DNA THERAPEUTICS, AND 3 TALKS ON POST-TRANSLATIONAL PATHWAY-BASED INTERVENTION, INCLUDING DRUG REPURPOSING. A POIGNANT ALL-HANDS DISCUSSION ON THE EFFECTS OF COVID-19 ON OUR RESEARCH COMMUNITY AND SUMMATION AND KEY FINDINGS SESSIONS, MODERATED BY WORLD-RENOWNED AGING INVESTIGATOR JUDITH CAMPISI, PHD, WILL GALVANIZE THE GROUP WITH ONE COMMON GOAL: TO BRING HOPE TO THOSE WITH PROGERIA FOR A LONG AND HEALTHY FUTURE. BASED ON PRIOR MEETING TRENDS, WE ESTIMATE 200 ATTENDEES FROM 14 COUNTRIES, 28 SPEAKERS AND 50 POSTERS. CONCLUSION: SCIENCE PRESENTED AT THIS MEETING WILL GREATLY CONTRIBUTE TO THE NEXT WAVE OF DISCOVERY IN PROGERIA AND ITS RELATIONSHIPS TO AGING AND CVD IN THE GENERAL POPULATION.

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