The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy Editorial
| Authors: | Pierpont, E. I.; Bennett, A. M.; Schoyer, L.; Stronach, B.; Anschutz, A.; Borrie, S. C.; Briggs, B.; Burkitt-Wright, E.; Castel, P.; Cirstea, I. C.; Draaisma, F.; Ellis, M.; Fear, V. S.; Frone, M. N.; Flex, E.; Gelb, B. D.; Green, T.; Gripp, K. W.; Khoshkhoo, S.; Kieran, M. W.; Kleemann, K.; Klein-Tasman, B. P.; Kontaridis, M. I.; Kruszka, P.; Leoni, C.; Liu, C. Z.; Merchant, N.; Magoulas, P. L.; Moertel, C.; Prada, C. E.; Rauen, K. A.; Roelofs, R.; Rossignol, R.; Sevilla, C.; Sevilla, G.; Sheedy, R.; Stieglitz, E.; Sun, D.; Tiemens, D.; White, F.; Wingbermühle, E.; Wolf, C.; Zenker, M.; Andelfinger, G. |
| Title: | The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy |
| Abstract: | 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. © 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. |
| Keywords: | genetics; clinical feature; treatment planning; neoplasm; neoplasms; neurofibromatosis; map kinase signaling system; signaling; drug development; health care quality; program evaluation; clinical research; ras protein; daily life activity; costello syndrome; ras proteins; energy metabolism; metabolic disorder; health care delivery; congenital heart malformation; heart defects, congenital; therapeutics; health care practice; noonan syndrome; ectodermal dysplasia; mapk signaling; humans; human; article; intersectoral collaboration; knowledge gap; stakeholder participation; cardio-facio-cutaneus syndrome; self advocacy |
| Journal Title: | American Journal of Medical Genetics Part A |
| Volume: | 194 |
| Issue: | 4 |
| ISSN: | 1552-4825 |
| Publisher: | Wiley Liss, Inc |
| Date Published: | 2024-04-01 |
| Start Page: | e63477 |
| Language: | English |
| DOI: | 10.1002/ajmg.a.63477 |
| PUBMED: | 37969032 |
| PROVIDER: | scopus |
| PMCID: | PMC10939912 |
| DOI/URL: | |
| Notes: | Article -- Source: Scopus |
