The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

Maria I. Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E. Axelrad, Annette Bakker, Anton M. Bennett, Alberto Broniscer, Pau Castel, Caitlin A. Chang, Lukas Cyganek, Tirtha K. Das, Jeroen den Hertog, Emilia Galperin, Shruti Garg, Bruce D. Gelb, Kristiana GordonTamar Green, Karen W. Gripp, Maxim Itkin, Maija Kiuru, Bruce R. Korf, Jeff R. Livingstone, Alejandro López-Juárez, Pilar L. Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I. Pierpont, Kevin Plouffe, Katherine A. Rauen, Suma P. Shankar, Shane B. Smith, David A. Stevenson, Marco Tartaglia, Richard Van, Morgan E. Wagner, Stephanie M. Ware, Martin Zenker

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.

Original languageEnglish (US)
Pages (from-to)1915-1927
Number of pages13
JournalAmerican Journal of Medical Genetics, Part A
Volume188
Issue number6
DOIs
StatePublished - Jun 2022

Bibliographical note

Funding Information:
CFC International; Children’s Tumor Foundation; Costello Syndrome Family Network; International Costello Syndrome Support Group; National Center For Advancing Translational Sciences and the National Institute for Child Health and Human Development of the National Institutes of Health; Neurofibromatosis Network; NIH‐R01‐HL102368; NIH‐R35 HL125742; Noonan Syndrome Association; Noonan Syndrome Foundation; Noonan UK; Masonic Medical Research Institute; Revolution Medicines; Onconova Therapeutics; Day One Biopharmaceuticals; Boehringer Ingelheim; Igia Pharmaceuticals; Human Development of the National Institutes of Health, Grant/Award Number: R13TR003727; National Institute for Child Health; National Center For Advancing Translational Sciences; National Institutes of Health, Grant/Award Numbers: NIH‐R35 HL125742, NIH‐R01‐HL102368 Funding information

Funding Information:
All authors and speakers were actively involved in the development of this document and have given permission for publication. The symposium program was developed through early brainstorming sessions among RASopathies Network, Chairs Drs. Kontaridis and Roberts, and honorary Co‐chairs Drs. Tartaglia and Zenker, following cancellation of the European Meeting on Rare Disorders of the RAS‐MAPK Pathway in 2020 due to the Covid‐19 pandemic. The seventh International RASopathies Symposium was supported in part by the National Center For Advancing Translational Sciences and the National Institute for Child Health and Human Development of the National Institutes of Health under Award Number R13TR003727. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The RASopathies Network is grateful for additional support received from Igia Pharmaceuticals, Boehringer Ingelheim, Day One Biopharmaceuticals, Onconova Therapeutics, and Revolution Medicines. We also thank the following partner organizations for their support: CFC International, Children's Tumor Foundation, Costello Syndrome Family Network, International Costello Syndrome Support Group, Neurofibromatosis Network, Noonan Syndrome Association, Noonan Syndrome Foundation, and Noonan UK. Special thanks goes to Michelle Ellis of Noonan UK, for her efforts in recruiting and supporting presenters from the RASopathies family communities to share their stories.

Funding Information:
Work described herein is supported by NIH‐R01‐HL102368 and the Masonic Medical Research Institute to MIK; NIH‐R35 HL125742 to BDG.

Funding Information:
All authors and speakers were actively involved in the development of this document and have given permission for publication. The symposium program was developed through early brainstorming sessions among RASopathies Network, Chairs Drs. Kontaridis and Roberts, and honorary Co-chairs Drs. Tartaglia and Zenker, following cancellation of the European Meeting on Rare Disorders of the RAS-MAPK Pathway in 2020 due to the Covid-19 pandemic. The seventh International RASopathies Symposium was supported in part by the National Center For Advancing Translational Sciences and the National Institute for Child Health and Human Development of the National Institutes of Health under Award Number R13TR003727. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The RASopathies Network is grateful for additional support received from Igia Pharmaceuticals, Boehringer Ingelheim, Day One Biopharmaceuticals, Onconova Therapeutics, and Revolution Medicines. We also thank the following partner organizations for their support: CFC International, Children's Tumor Foundation, Costello Syndrome Family Network, International Costello Syndrome Support Group, Neurofibromatosis Network, Noonan Syndrome Association, Noonan Syndrome Foundation, and Noonan UK. Special thanks goes to Michelle Ellis of Noonan UK, for her efforts in recruiting and supporting presenters from the RASopathies family communities to share their stories.

Publisher Copyright:
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

Keywords

  • Costello syndrome
  • Noonan syndrome
  • RASopathy
  • cardiofaciocutaneus syndrome
  • neurofibromatosis
  • signaling

PubMed: MeSH publication types

  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

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