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The sixth international RASopathies symposium: Precision medicine—From promise to practice

Gripp, KW; Schill, L; Schoyer, L; Stronach, B; Bennett, AM; Blaser, S; Brown, A; ... Ratner, N; + view all (2020) The sixth international RASopathies symposium: Precision medicine—From promise to practice. American Journal of Medical Genetics Part A , 182 (3) pp. 597-606. 10.1002/ajmg.a.61434. Green open access

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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.

Type: Article
Title: The sixth international RASopathies symposium: Precision medicine—From promise to practice
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ajmg.a.61434
Publisher version: https://doi.org/10.1002/ajmg.a.61434
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: cardio‐facio‐cutaneous syndrome, Costello syndrome, kinases, neurofibromatosis, Noonan syndrome, RASopathy
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio
URI: https://discovery.ucl.ac.uk/id/eprint/10090116
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