The 9th International <scp>RASopathies</scp> Symposium

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.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2026-03-16
DOI
https://doi.org/10.1002/ajmg.a.70121
Primary Topic
Systemic Lupus Erythematosus Research
Type
article
Field-Weighted Citation Impact
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article

The 9th International RASopathies Symposium

Saskia M. Brachmann, Maija Kiuru, Matthew Traylor, Marielle E. Yohe et al.
American Journal of Medical Genetics Part A
Systemic Lupus Erythematosus Research
article

The 9th International RASopathies Symposium

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

Abstract

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.

American Journal of Medical Genetics Part A
California Institute of Technology (US), Novartis (Switzerland) (CH), Cincinnati Children's Hospital Medical Center (US), Allegheny Health Network (US), Seoul National University (KR), Johns Hopkins University (US), Radboud University Nijmegen (NL), University of California, San Francisco (US), Medical College of Wisconsin (US), Johns Hopkins Medicine (US), Great Ormond Street Hospital (GB), Casa Sollievo della Sofferenza (IT), Umpqua Community College (US), New Generation University College (ET), Radboud University Medical Center (NL), Yale University (US), University of California San Diego (US), Manchester University NHS Foundation Trust (GB), Radboud Institute for Molecular Life Sciences (NL), MRC Weatherall Institute of Molecular Medicine (GB), Child Health and Development Institute (US), Rome Foundation (US), Amalia Kinderziekenhuis (NL), MRC Human Immunology Unit (GB), Lurie Children's Hospital (US), Frederick National Laboratory for Cancer Research (US), University of Minnesota Medical Center (US), Stanford Medicine (US), National Cancer Institute (US), Eunice Kennedy Shriver National Institute of Child Health and Human Development (US), Cancer Genetics (United States) (US), BioScience Laboratories (United States) (US), Oxford BioMedica (United Kingdom) (GB), Patient Advocate Foundation (US), UCSF Helen Diller Family Comprehensive Cancer Center (US), University College London (GB), University of Colorado Anschutz Medical Campus (US), New York University (US), University of Cincinnati (US), University of Montana (US), University of California, Davis (US), Stanford University (US)
Partnerships for the goals
Openalex Percentile: Top 20%
Systemic Lupus Erythematosus Research
DOIOpen Access PDFOpenAlex
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