m+Medelevator.RU
← Поиск публикаций
American journal of medical genetics. Part A · 2026

The 9th International RASopathies Symposium.

Conference ProceedingsНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Castel Pau, Schoyer Lisa, Stronach Beth, Bogdanova Raya, Bennett Anton M, Blakeley Jaishri, Bornhorst Miriam, Bowers Tammy, Brachmann Saskia M, Burkitt-Wright Emma, Chatfield Kathryn, De Luca Alessandro, El-Chammas Khalil, Elkadri Abdul, Fortunato John E, Gelb Bruce D, Goriely Anne, Gripp Karen, Grover Kassidy, Homan Lindsay, Kern Kenneth A, Kiuru Maija, Lawson Charles Chuck, Lee Yong-Seok, McCormick Frank, Ney Gina, Nuevo-Tapioles Cristina, Pardej Sara, Pierpont Elizabeth I, Plank Julia, Ratner Nancy, Rauen Katherine A, Robinson J Elliott, Rogers Les, Sheppard Sarah E, Shiels Keir, Stevenson David, Tiemens Dagmar, Traylor Matthew, Weaver K Nicole, Yohe Marielle, Green Tamar

Аннотация

The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. Given the heterogeneous clinical presentations of these disorders that involve abnormalities across multiple organ systems, multidisciplinary clinical management and progress in scientific research are essential for optimal patient diagnosis and care. The 9th International RASopathies Symposium, a biennial meeting, was organized by the patient advocacy group RASopathies Network and showcased recent discoveries, case studies, and advances in preclinical research. Participants, who included scientists, clinicians, industry representatives, patients, and family advocates, explored knowledge gaps, innovative clinical approaches, and lived experiences of individuals with a RASopathy. Sessions centered around organ systems were introduced with a patient perspective to highlight the burden of disease, continued with presentations from established and early-career investigators. Overall, the RASopathies Symposia serve as a catalyst for sustained community collaboration focused on enhancing patient health and accelerating the translation of discoveries into effective treatments.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты