Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 188, Issue 6, Pages 1915-1927Publisher
WILEY
DOI: 10.1002/ajmg.a.62716
Keywords
cardiofaciocutaneus syndrome; Costello syndrome; neurofibromatosis; Noonan syndrome; RASopathy; signaling
Categories
Funding
- CFC International
- Children's Tumor Foundation
- Costello Syndrome Family Network
- International Costello Syndrome Support Group
- National Center For Advancing Translational Sciences
- National Institute for Child Health and Human Development of the National Institutes of Health [NIH-R01-HL102368, NIH-R35 HL125742]
- Noonan Syndrome Association
- Noonan Syndrome Foundation
- Masonic Medical Research Institute
- Day One Biopharmaceuticals
- Boehringer Ingelheim
- Human Development of the National Institutes of Health [R13TR003727]
- National Institutes of Health [NIH-R01-HL102368, NIH-R35 HL125742]
- National Institute for Child Health
- Noonan UK
- Revolution Medicines
- Onconova Therapeutics
- Igia Pharmaceuticals
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RASopathies are a group of genetic disorders caused by genes affecting the Ras/MAPK signaling pathway. Progress has been made in translating research findings to the clinic, with the use of pathway inhibitors for treatment. The seventh International RASopathies Symposium aimed to enhance new discoveries in the field and bring together stakeholders from various backgrounds.
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.
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