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The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Gripp, Karen W; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Bennett, Anton M; Blaser, Susan; Brown, Amanda; Burdine, Rebecca; Burkitt-Wright, Emma; Castel, Pau; Darilek, Sandra; Dias, Alwyn; Dyer, Tuesdi; Ellis, Michelle; Erickson, Gregg; Gelb, Bruce D; Green, Tamar; Gross, Andrea; Ho, Alan; Holder, James Lloyd; Inoue, Shin-Ichi; Jelin, Angie C; Kennedy, Annie; Klein, Richard; Kontaridis, Maria I; Magoulas, Pilar; McConnell, Darryl B; McCormick, Frank; Neel, Benjamin G; Prada, Carlos E; Rauen, Katherine A; Roberts, Amy; Rodriguez-Viciana, Pablo; Rosen, Neal; Rumbaugh, Gavin; Sablina, Anna; Solman, Maja; Tartaglia, Marco; Thomas, Angelica; Timmer, William C; Venkatachalam, Kartik; Walsh, Karin S; Wolters, Pamela L; Yi, Jae-Sung; Zenker, Martin; Ratner, Nancy.
  • Gripp KW; Al duPont Hospital for Children, Wilmington, Delaware.
  • Schill L; RASopathies Network USA, Altadena, California.
  • Schoyer L; RASopathies Network USA, Altadena, California.
  • Stronach B; RASopathies Network USA, Altadena, California.
  • Bennett AM; Yale University School of Medicine, New Haven, Connecticut.
  • Blaser S; Hospital for Sick Children, Toronto, Ontario, Canada.
  • Brown A; Noonan Syndrome Foundation, Farmington, Connecticut.
  • Burdine R; Princeton University, Princeton, New Jersey.
  • Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and University of Manchester, Manchester, UK.
  • Castel P; UCSF, Helen Diller Family Comprehensive Cancer Center, San Francisco, California.
  • Darilek S; Baylor College of Medicine, Houston, Texas.
  • Dias A; Bridge Group Consulting, Morristown, New Jersey.
  • Dyer T; CFC International, Saint Petersburg, Florida.
  • Ellis M; RASopathies Network USA, Altadena, California.
  • Erickson G; Neurofibromatosis Network, Rochester, Minnesota.
  • Gelb BD; Department of Pediatrics, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Green T; Department of Genetics and Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Gross A; Stanford University, Stanford, California.
  • Ho A; National Cancer Institute, Bethesda, Maryland.
  • Holder JL; Memorial Sloan Kettering Cancer Center, New York, New York.
  • Inoue SI; Baylor College of Medicine, Houston, Texas.
  • Jelin AC; Tohoku University School of Medicine, Sendai, Miyagi, Japan.
  • Kennedy A; Johns Hopkins Hospital, Baltimore, Maryland.
  • Klein R; Parent Project Muscular Dystrophy, Hackensack, New Jersey.
  • Kontaridis MI; Parent Liaison, FDA, Bethesda, Maryland.
  • Magoulas P; Masonic Medical Research Institute, Utica, New York.
  • McConnell DB; Baylor College of Medicine, Houston, Texas.
  • McCormick F; Boehringer-Ingelheim Regional Center Vienna, Vienna, Austria.
  • Neel BG; UCSF, Helen Diller Family Comprehensive Cancer Center, San Francisco, California.
  • Prada CE; Perlmutter Cancer Center and NYU School of Medicine, NYU Langone Health, New York, New York.
  • Rauen KA; Cincinnati Children's Hospital Medical Center and University of Cincinnati, School of Medicine, Cincinnati, Ohio.
  • Roberts A; Department of Pediatrics, Division of Genomic Medicine, University of California Davis, Sacramento, California.
  • Rodriguez-Viciana P; Department of Cardiology, Division of Genetics, Boston Children's Hospital, Boston, Massachusetts.
  • Rosen N; Department of Pediatrics, Division of Genetics, Boston Children's Hospital, Boston, Massachusetts.
  • Rumbaugh G; UCL Cancer Institute, London, UK.
  • Sablina A; Memorial Sloan Kettering Cancer Center, New York, New York.
  • Solman M; The Scripps Research Institute, Jupiter, Florida.
  • Tartaglia M; VIB-KU Leuven Center for Cancer Biology, Leuven, Belgium.
  • Thomas A; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, The Netherlands.
  • Timmer WC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy.
  • Venkatachalam K; Costello Syndrome Family Network, Woodinville, Washington.
  • Walsh KS; National Cancer Institute, Bethesda, Maryland.
  • Wolters PL; McGovern Medical School, University of Texas Health Science Center, Houston, Texas.
  • Yi JS; Children's National Hospital & The George Washington School of Medicine, Washington, District of Columbia.
  • Zenker M; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland.
  • Ratner N; Yale University School of Medicine, New Haven, Connecticut.
Am J Med Genet A ; 182(3): 597-606, 2020 03.
Article en En | MEDLINE | ID: mdl-31825160
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas ras / Quinasas de Proteína Quinasa Activadas por Mitógenos / Enfermedades Genéticas Congénitas Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas ras / Quinasas de Proteína Quinasa Activadas por Mitógenos / Enfermedades Genéticas Congénitas Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article