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.
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Rodriguez-Viciana Gripp 2019 RASNetSymp Proceedings Draft 10.11for co-authors.pdf - Accepted Version Download (354kB) | Preview |
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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