Rasopathies Network Usa

6TH INTERNATIONAL RASOPATHIES SYMPOSIUM: PRECISION MEDICINE - FROM PROMISE TO PRACTICE

4TH INTERNATIONAL RASOPATHIES SYMPOSIUM

8TH INTERNATIONAL RASOPATHIES SYMPOSIUM: EXPANDING RESEARCH AND CARE PRACTICE THROUGH GLOBAL COLLABORATION AND ADVOCACY - PROJECT SUMMARY RAS-RAF-MEK-ERK SIGNALING PATHWAY DYSREGULATION IS RESPONSIBLE FOR A LARGE GROUP OF HUMAN CONGENITAL SYNDROMES COLLECTIVELY TERMED RASOPATHIES THAT SHARE A PATHOGENIC MECHANISM OF ELEVATED RAS/ERK SIGNALING AND OVERLAPPING CLINICAL FEATURES. RASOPATHY SYNDROMES FALL ALONG A SPECTRUM WITH VARIABLE, MULTISYSTEM COMPLICATIONS REFLECTING THE ESSENTIAL AND WIDESPREAD ROLE OF RAS SIGNALING THROUGHOUT DEVELOPMENT. THE MEDICAL, FINANCIAL, AND SOCIAL BURDEN ON FAMILIES CAN BE SUBSTANTIAL. SOME OF THE RASOPATHIES (E.G., COSTELLO, CARDIOFACIOCUTANEOUS, LEGIUS SYNDROMES) ARE RELATIVELY RARE, WHEREAS NOONAN SYNDROME AND NEUROFIBROMATOSIS TYPE 1 ARE ESTIMATED TO AFFECT 1:1000-1:2500 PEOPLE. THE STUDY OF RARE DISEASES NECESSITATES INCLUSION OF BROAD EXPERTISE AND PARTNER NETWORKS TO REACH CRITICAL MASS FOR PRODUCTIVE INSIGHTS. TO ADVANCE UNDERSTANDING OF ALL RASOPATHIES, WE SEEK FUNDING TO CONVENE THE 8TH INTERNATIONAL RASOPATHIES SYMPOSIUM: EXPANDING RESEARCH AND CARE PRACTICE THROUGH GLOBAL COLLABORATION AND ADVOCACY, A HYBRID, VIRTUAL/IN-PERSON EVENT IN DENVER, COLORADO ON JULY 21-23, 2023. THIS FORMAT IS EXPECTED TO ATTRACT THE GREATEST PARTICIPATION OF CLINICIANS, RESEARCHERS, TRAINEES, BIOPHARMA COMPANIES, ADVOCATES, AND AFFECTED RASOPATHY FAMILIES FROM THE INTERNATIONAL COMMUNITY. THE SYMPOSIUM IS DISTINGUISHED FROM OTHERS BY BEING HIGHLY MULTIDISCIPLINARY, SCIENCE-FOCUSED AND INCLUSIVE OF ADVOCATES AND FAMILIES, AND DISTINCT FROM TARGETED ONCOLOGY OR RAS-ASSOCIATED DRUG DISCOVERY MEETINGS. THE ORGANIZING COMMITTEE OF PARENT ADVOCATES, ACADEMIC AND CLINICAL CHAIRS, CONSISTS OF THREE WOMEN AND TWO PEOPLE OF COLOR. A DIVERSE GROUP OF PRESENTERS, PANELISTS, AND MODERATORS, INCLUDING EARLY-STAGE INVESTIGATORS, WILL CONVENE TO DISCUSS (I) QUALITY OF LIFE ISSUES, (II) RECENT CLINICAL PROGRESS, (III) NEURODEVELOPMENT FROM BRAIN TO BEHAVIOR, (IV) DISORDERED METABOLISM, (V) FEEDING AND GASTROINTESTINAL CHALLENGES, (VI) CURRENT THERAPEUTIC LANDSCAPE AND ADVANCES IN DRUG DISCOVERY, (VII) GENOTYPE-PHENOTYPE CORRELATIONS, AND (VIII) GLOBAL COLLABORATIONS AND ADVOCACY. CONFERENCE ADVERTISEMENTS WILL SPECIFICALLY WELCOME UNDERREPRESENTED GROUPS AND NEW INVESTIGATORS TO INCREASE THE TALENT POOL FROM WHICH TO BUILD AN INTERNATIONAL NETWORK OF RESEARCHERS, BENEFITTING THE BROADER SCIENTIFIC AND RASOPATHIES COMMUNITIES. FUNDS ARE REQUESTED TO SUPPORT TRAVEL/LODGING FOR ORGANIZERS AND SPEAKERS, SCHOLARSHIPS FOR TRAINEES/EARLY-STAGE INVESTIGATORS WHOSE MERITORIOUS ABSTRACTS ARE SELECTED FOR PRESENTATION, AND IMPLEMENTATION OF THE HYBRID CONFERENCE LOGISTICS.

5TH INTERNATIONAL RASOPATHIES SYMPOSIUM

2021 INTERNATIONAL RASOPATHIES SYMPOSIUM - PROJECT SUMMARY THE RAS/EXTRACELLULAR SIGNAL REGULATED KINASE (ERK) PATHWAY IS ESSENTIAL FOR PROLIFERATION, DIFFERENTIATION AND CELL SURVIVAL. WHILE SOMATIC MUTATIONS ON THIS SIGNALING PATHWAY CAUSE ONE THIRD OF HUMAN MALIGNANCIES, GERMLINE MUTATIONS IN GENES AFFECTING RAS/ERK SIGNALING CAUSE A GROUP OF DEVELOPMENTAL DISORDERS TERMED RASOPATHIES WITH OVERLAPPING PHENOTYPIC FEATURES OF VARYING SEVERITY. WHILE INDIVIDUALLY RARE, COLLECTIVELY, RASOPATHIES COMPRISE ONE OF THE LARGEST GROUPS OF CONGENITAL DISORDERS WORLDWIDE AFFECTING ~1:1000-1:2500 INDIVIDUALS. HENCE, THE PUBLIC HEALTH IMPACT ASSOCIATED WITH ALTERED RAS/ERK SIGNALING DUE TO SOMATIC AND GERMLINE PATHOGENIC VARIANTS IS ENORMOUS. RASOPATHIES INCLUDE NEUROFIBROMATOSIS TYPE 1 (NF1), NOONAN AND NOONAN-LIKE SYNDROMES (NS, NSML, NS-LAH), COSTELLO (CS) AND CARDIO-FACIO-CUTANEOUS (CFC) SYNDROMES, AMONG OTHERS. 2021 MARKS THE 20TH ANNIVERSARY OF THE DISCOVERY OF THE FIRST HUMAN RASOPATHY GENE PROVIDING A TIMELY BACKDROP TO CONVENE THE 7TH INTERNATIONAL RASOPATHIES SYMPOSIUM: PATHWAYS TO A CURE - EXPANDING KNOWLEDGE, ENHANCING RESEARCH, AND THERAPEUTIC DISCOVERY TO BE HELD IN DENVER, COLORADO, JULY 23-25TH, 2021. THE PROPOSED SYMPOSIUM WILL CONTINUE TO BUILD ON PREVIOUS PROGRAMS GATHERING CLINICIANS, RESEARCHERS, TRAINEES, NIH AND PHARMA REPRESENTATIVES, AND INDIVIDUALS AND FAMILIES AFFECTED BY A RASOPATHY. THE 2.5-DAY PROGRAM INTEGRATES FAMILY PARTICIPATION IN A POSTER SESSION, ADVOCATE KEYNOTE TALK, AND PANEL DISCUSSIONS, AS WELL AS HOSTING DEEP SCIENCE SESSIONS FOR EXPERTS TO SHARE NEW RESEARCH FINDINGS, DATA ANALYSES, AND CASE STUDIES ACROSS THE SPECTRUM OF RASOPATHIES. THE LAST SESSION WILL ADDRESS THE SIGNIFICANT TOPIC OF THERAPEUTIC APPROACHES, WHEREBY STAKEHOLDERS AND FAMILIES CAN LEARN FROM EACH OTHER WHAT POSSIBILITIES ARE IN DEVELOPMENT AND WHAT OUTCOMES ARE MOST NEEDED. THE CONFERENCE CHAIRS ARE MARIA KONTARIDIS, PHD, EXECUTIVE DIRECTOR/DIRECTOR OF RESEARCH AT THE MASONIC MEDICAL RESEARCH INSTITUTE, UTICA, NY AND AMY ROBERTS, MD, ASSOCIATE PROFESSOR OF MEDICINE AT HARVARD MEDICAL SCHOOL AND DIRECTOR OF CLINICAL CARDIOVASCULAR GENETICS AT BOSTON CHILDREN'S HOSPITAL. TWO ADDITIONAL CO-CHAIRS, MARCO TARTAGLIA, PHD, DIRECTOR OF THE GENETICS AND RARE DISEASES RESEARCH DIVISION, OPBG, ROME, ITALY, AND MARTIN ZENKER, MD, DIRECTOR OF THE INSTITUTE FOR HUMAN GENETICS AT MAGDEBURG UNIVERSITY GERMANY, ARE INCLUDED FOR THEIR INPUT AFTER THE 2020 EUROPEAN MEETING ON RASOPATHY DISORDERS WAS CANCELLED AMID THE PANDEMIC. LISA SCHOYER, PI AND PRESIDENT OF RASOPATHIESNET, TOGETHER WITH CO-INVESTIGATORS LISA SCHILL, RASNET VICE PRESIDENT, AND BETH STRONACH PHD, BOARD SECRETARY, WILL INCLUDE PATIENT ADVOCATES IN PLANNING AND IMPLEMENTATION AND WILL MANAGE THE LOGISTICS OF THE SYMPOSIUM.

9TH INTERNATIONAL RASOPATHIES SYMPOSIUM - PROJECT SUMMARY ABERRANT PATHOGENIC SIGNALING VIA THE RAS-RAF-MEK-ERK SIGNAL TRANSDUCTION PATHWAY IS RESPONSIBLE FOR A LARGE GROUP OF HUMAN CONGENITAL SYNDROMES COLLECTIVELY TERMED RASOPATHIES. THESE CONDITIONS RESULT IN MANY SIMILAR, BUT VARIABLE, CLINICAL FEATURES AND POSE SUBSTANTIAL MEDICAL, FINANCIAL, AND SOCIAL BURDENS ON FAMILIES. THE INCIDENCE OF SOME RASOPATHIES (E.G., COSTELLO, CARDIOFACIOCUTANEOUS, LEGIUS SYNDROMES) IS RARE, WHEREAS NOONAN SYNDROME AND NEUROFIBROMATOSIS TYPE 1 ARE ESTIMATED TO AFFECT ~1:2000 BIRTHS. THE STUDY OF RARE DISEASES NECESSITATES INCLUSION OF BROAD EXPERTISE AND PARTNER NETWORKS TO REACH CRITICAL MASS FOR PRODUCTIVE INSIGHTS. TO ADVANCE UNDERSTANDING AND TREATMENTS FOR THE RASOPATHIES, WE PROPOSE TO CONVENE THE 9TH INTERNATIONAL RASOPATHIES SYMPOSIUM IN ORLANDO, FLORIDA ON JULY 25-27, 2025. THE FORMAT WILL CENTER SCIENTIFIC SESSIONS AROUND ORGAN SYSTEMS THAT ARE UNDERSTUDIED OR EMERGING IN SIGNIFICANCE. SESSIONS ARE DESIGNED TO FACILITATE CROSS-DISCIPLINARY DISCUSSION BEGINNING WITH A PATIENT PERSPECTIVE, AND BASIC, TRANSLATIONAL, AND CLINICAL RESEARCH INSIGHTS. THE SYMPOSIUM IS DISTINGUISHED FROM OTHERS BY BEING HIGHLY MULTIDISCIPLINARY, SCIENCE-FOCUSED AND INCLUSIVE OF ADVOCATES AND FAMILIES, AND DISTINCT FROM TARGETED ONCOLOGY OR RAS-ASSOCIATED DRUG DISCOVERY MEETINGS. THE ORGANIZING COMMITTEE CONSISTS OF TWO PARENT ADVOCATES, AN ACADEMIC AND A CLINICAL CHAIR. A BROAD GROUP OF PRESENTERS, PANELISTS, AND MODERATORS, INCLUDING EARLY-STAGE INVESTIGATORS, HAILING FROM ACADEMIC, GOVERNMENT, MEDICAL, ADVOCACY, AND INDUSTRY SECTORS, WILL CONVENE TO DISCUSS RASOPATHY GENETICS AND PREDISPOSITION TO CANCER, GI, NEURO, CARDIO, AND LYMPHATIC SYSTEMS, AND THE EXPANDING THERAPEUTIC PIPELINE FOR RASOPATHIES TREATMENTS. CONFERENCE ADVERTISEMENTS WILL SPECIFICALLY WELCOME RESEARCH TRAINEES, CLINICAL FELLOWS, AND NEW INVESTIGATORS FROM A BROAD RANGE OF DISCIPLINES TO INCREASE THE TALENT POOL FROM WHICH TO BUILD AN INTERNATIONAL NETWORK OF RESEARCHERS, BENEFITTING THE BROADER SCIENTIFIC AND RASOPATHIES COMMUNITIES. FUNDS ARE REQUESTED TO SUPPORT TRAVEL/LODGING FOR ORGANIZERS AND SPEAKERS, SCHOLARSHIPS FOR TRAINEES/EARLY-STAGE INVESTIGATORS WHOSE MERITORIOUS ABSTRACTS ARE SELECTED FOR PRESENTATION, AND IMPLEMENTATION OF THE CONFERENCE LOGISTICS.