The Sixth International RASopathies Symposium: Precision medicine - From promise to practice Journal Article

   


Authors: Gripp, K. W.; Schill, L.; Schoyer, L.; Stronach, B.; Bennett, A. M.; Blaser, S.; Brown, A.; Burdine, R.; Burkitt-Wright, E.; Castel, P.; Darilek, S.; Dias, A.; Dyer, T.; Ellis, M.; Erickson, G.; Gelb, B. D.; Green, T.; Gross, A.; Ho, A.; Holder, J. L. Jr; Inoue, S. I.; Jelin, A. C.; Kennedy, A.; Klein, R.; Kontaridis, M. I.; Magoulas, P.; McConnell, D. B.; McCormick, F.; Neel, B. G.; Prada, C. E.; Rauen, K. A.; Roberts, A.; Rodriguez-Viciana, P.; Rosen, N.; Rumbaugh, G.; Sablina, A.; Solman, M.; Tartaglia, M.; Thomas, A.; Timmer, W. C.; Venkatachalam, K.; Walsh, K. S.; Wolters, P. L.; Yi, J. S.; Zenker, M.; Ratner, N.
Article Title: The Sixth International RASopathies Symposium: Precision medicine - From promise to practice
Abstract: The RASopathies are a group of genetic disorders that result from germline pathogenic variants affecting RAS-mitogen activated protein kinase (MAPK) pathway genes. RASopathies share RAS/MAPK pathway dysregulation and share phenotypic manifestations affecting numerous organ systems, causing lifelong and at times life-limiting medical complications. RASopathies may benefit from precision medicine approaches. For this reason, the Sixth International RASopathies Symposium focused on exploring precision medicine. This meeting brought together basic science researchers, clinicians, clinician scientists, patient advocates, and representatives from pharmaceutical companies and the National Institutes of Health. Novel RASopathy genes, variants, and animal models were discussed in the context of medication trials and drug development. Attempts to define and measure meaningful endpoints for treatment trials were discussed, as was drug availability to patients after trial completion. © 2019 Wiley Periodicals, Inc.
Keywords: unclassified drug; gene mutation; clinical feature; drug tolerability; squamous cell carcinoma; drug efficacy; nonhuman; unspecified side effect; conference paper; drug targeting; gene; neurofibromatosis; quality of life; genetic variability; gene function; dexamethasone; drug potency; dasatinib; medical research; drug response; tipifarnib; thyroid cancer; histiocytosis; pathogenicity; costello syndrome; drug half life; genetic disorder; malignant peripheral nerve sheath tumor; drug sensitivity; neurofibroma; protein inhibitor; 2 morpholino 8 phenylchromone; personalized medicine; langerhans cell histiocytosis; kinases; head and neck squamous cell carcinoma; 2 (2 chloro 4 iodoanilino) n cyclopropylmethoxy 3,4 difluorobenzamide; prenatal diagnosis; cardio-facio-cutaneous syndrome; noonan syndrome; rasopathy; selumetinib; haploinsufficiency; mitogen activated protein kinase kinase inhibitor; acetylcysteine; trametinib; patient advocacy; human; priority journal; solid malignant neoplasm; bi 1701963; bi 2852; bi 3406; shp 099; syngap1 gene
Journal Title: American Journal of Medical Genetics Part A
Volume: 182
Issue: 3
ISSN: 1552-4825
Publisher: Wiley Liss, Inc  
Date Published: 2020-03-01
Start Page: 597
End Page: 606
Language: English
DOI: 10.1002/ajmg.a.61434
PUBMED: 31825160
PROVIDER: scopus
PMCID: PMC7021559
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85076852114&doi=10.1002%2fajmg.a.61434&partnerID=40&md5=b2dd64df8928f65b014f5bc5f8b64773
Notes: Conference Paper -- Export Date: 1 April 2020 -- Source: Scopus
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