ArticleAmerican journal of medical genetics. Part A2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Non-Mammalian Models for Understanding Neurological Defects in RASopathies.Biomedicines · 2024Review
- Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.American journal of medical genetics. Part A · 2024Article
- Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.The American journal of case reports · 2023Article
- The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.Orphanet journal of rare diseases · 2023Article
- Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.American journal of medical genetics. Part A · 2022Article
- Mitochondria and the future of RASopathies: the emergence of bioenergetics.The Journal of clinical investigation · 2022Article
- Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.Frontiers in genetics · 2022Article
- Multidisciplinary Management of Costello Syndrome: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.Therapeutic advances in rare diseaseArticle
Corrections and comments
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Authors and funding
42 authors at 20 institutions in 7 countries.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.