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American journal of medical genetics. Part A · 2023

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Pierpont Elizabeth I, Bennett Anton M, Schoyer Lisa, Stronach Beth, Anschutz April, Borrie Sarah C, Briggs Benjamin, Burkitt-Wright Emma, Castel Pau, Cirstea Ion C, Draaisma Fieke, Ellis Michelle, Fear Vanessa S, Frone Megan N, Flex Elisabetta, Gelb Bruce D, Green Tamar, Gripp Karen W, Khoshkhoo Sattar, Kieran Mark W, Kleemann Karolin, Klein-Tasman Bonita P, Kontaridis Maria I, Kruszka Paul, Leoni Chiara, Liu Clifford Z, Merchant Nadia, Magoulas Pilar L, Moertel Christopher, Prada Carlos E, Rauen Katherine A, Roelofs Renée, Rossignol Rodrigue, Sevilla Christine, Sevilla Gigi, Sheedy Ryan, Stieglitz Elliot, Sun Daochun, Tiemens Dagmar, White Forest, Wingbermühle Ellen, Wolf Cordula, Zenker Martin, Andelfinger Gregor

Аннотация

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted global perspectives on clinical care and research, including strategies for building international collaborations and developing diverse patient cohorts in anticipation of interventional trials. This biannual meeting, organized by RASopathies Network, was held in a hybrid virtual/in-person format. The agenda featured emerging discoveries and case findings as well as progress in preclinical and therapeutic pipelines. Stakeholders including basic scientists, clinician-scientists, practitioners, industry representatives, patients, and family advocates gathered to discuss cutting edge science, recognize current gaps in knowledge, and hear from people with RASopathies about the experience of daily living. Presentations by RASopathy self-advocates and early-stage investigators were featured throughout the program to encourage a sustainable, diverse, long-term research and advocacy partnership focused on improving health and bringing treatments to people with RASopathies.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты