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Am J Med Genet A. 2019 Dec 11. doi: 10.1002/ajmg.a.61434. [Epub ahead of print]

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

Author information

1
Al duPont Hospital for Children, Wilmington, Delaware.
2
RASopathies Network USA, Altadena, California.
3
Yale University School of Medicine, New Haven, Connecticut.
4
Hospital for Sick Children, Toronto, Ontario, Canada.
5
Noonan Syndrome Foundation, Farmington, Connecticut.
6
Princeton University, Princeton, New Jersey.
7
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and University of Manchester, Manchester, UK.
8
UCSF, Helen Diller Family Comprehensive Cancer Center, San Francisco, California.
9
Baylor College of Medicine, Houston, Texas.
10
Bridge Group Consulting, Morristown, New Jersey.
11
CFC International, Saint Petersburg, Florida.
12
Neurofibromatosis Network, Rochester, Minnesota.
13
Department of Pediatrics, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
14
Department of Genetics and Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
15
Stanford University, Stanford, California.
16
National Cancer Institute, Bethesda, Maryland.
17
Memorial Sloan Kettering Cancer Center, New York, New York.
18
Tohoku University School of Medicine, Sendai, Miyagi, Japan.
19
Johns Hopkins Hospital, Baltimore, Maryland.
20
Parent Project Muscular Dystrophy, Hackensack, New Jersey.
21
Parent Liaison, FDA, Bethesda, Maryland.
22
Masonic Medical Research Institute, Utica, New York.
23
Boehringer-Ingelheim Regional Center Vienna, Vienna, Austria.
24
Perlmutter Cancer Center and NYU School of Medicine, NYU Langone Health, New York, New York.
25
Cincinnati Children's Hospital Medical Center and University of Cincinnati, School of Medicine, Cincinnati, Ohio.
26
Department of Pediatrics, Division of Genomic Medicine, University of California Davis, Sacramento, California.
27
Department of Cardiology, Division of Genetics, Boston Children's Hospital, Boston, Massachusetts.
28
Department of Pediatrics, Division of Genetics, Boston Children's Hospital, Boston, Massachusetts.
29
UCL Cancer Institute, London, UK.
30
The Scripps Research Institute, Jupiter, Florida.
31
VIB-KU Leuven Center for Cancer Biology, Leuven, Belgium.
32
Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, The Netherlands.
33
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy.
34
Costello Syndrome Family Network, Woodinville, Washington.
35
McGovern Medical School, University of Texas Health Science Center, Houston, Texas.
36
Children's National Hospital & The George Washington School of Medicine, Washington, District of Columbia.
37
Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland.
38
University Hospital Magdeburg, Institute of Human Genetics, Magdeburg, Germany.

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.

KEYWORDS:

Costello syndrome; Noonan syndrome; RASopathy; cardio-facio-cutaneous syndrome; kinases; neurofibromatosis

PMID:
31825160
DOI:
10.1002/ajmg.a.61434

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