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

Karen W. Gripp; Lisa Schill; Lisa Schoyer; Beth Stronach; Anton M. Bennett; Susan Blaser; Amanda Brown; Rebecca Burdine; Emma Burkitt-Wright; Pau Castel; Sandra Darilek; Alwyn Dias; Tuesdi Dyer; Michelle Ellis; Gregg Erickson; Bruce D. Gelb; Tamar Green; Andrea Gross; Alan Ho; James Lloyd Holder; Shin Ichi Inoue; Angie C. Jelin; Annie Kennedy; Richard Klein; Maria I. Kontaridis; Pilar Magoulas; Darryl B. McConnell; Frank McCormick; Benjamin G. Neel; Carlos E. Prada; Katherine A. Rauen; Amy Roberts; Pablo Rodriguez-Viciana; Neal Rosen; Gavin Rumbaugh; Anna Sablina; Maja Solman; Marco Tartaglia; Angelica Thomas; William C. Timmer; Kartik Venkatachalam; Karin S. Walsh; Pamela L. Wolters; Jae Sung Yi; Martin Zenker; Nancy Ratner

doi:10.1002/ajmg.a.61434

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

Karen W. Gripp
, Lisa Schill
, Lisa Schoyer
, Beth Stronach
, Anton M. Bennett
, Susan Blaser
, Amanda Brown
, Rebecca Burdine
, Emma Burkitt-Wright
, Pau Castel
, Sandra Darilek
, Alwyn Dias
, Tuesdi Dyer
, Michelle Ellis
, Gregg Erickson
, Bruce D. Gelb
, Tamar Green
, Andrea Gross
, Alan Ho
, James Lloyd Holder

Shin Ichi Inoue, Angie C. Jelin, Annie Kennedy, Richard Klein, Maria I. Kontaridis, Pilar Magoulas, Darryl B. McConnell, Frank McCormick, Benjamin G. Neel, Carlos E. Prada, Katherine A. Rauen, Amy Roberts, Pablo Rodriguez-Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Solman, Marco Tartaglia, Angelica Thomas, William C. Timmer, Kartik Venkatachalam, Karin S. Walsh, Pamela L. Wolters, Jae Sung Yi, Martin Zenker, Nancy Ratner

RASOPATHIES NETWORK USA
Yale University
University of Toronto
Noonan Syndrome Foundation
Princeton University
Manchester University NHS Foundation Trust
University of California at San Francisco
Baylor College of Medicine
Bridge Group Consulting
CFC International
Neurofibromatosis Network
Icahn School of Medicine at Mount Sinai
Stanford University
National Institutes of Health
Memorial Sloan-Kettering Cancer Center
Tohoku University
Johns Hopkins University
Parent Project Muscular Dystrophy
United States Food and Drug Administration
Masonic Medical Research Laboratory
Boehringer Ingelheim GmbH
New York University
Cincinnati Children's Hospital Medical Center
University of California at Davis
Boston Children's Hospital
University College London
University of Florida
KU Leuven
Utrecht University
IRCCS Ospedale pediatrico Bambino Gesù - Roma
Costello Syndrome Family Network
University of Texas Health Science Center at Houston
George Washington University
Otto von Guericke University Magdeburg

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

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.

Original language	English
Pages (from-to)	597-606
Number of pages	10
Journal	American Journal of Medical Genetics, Part A
Volume	182
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.61434
State	Published - 1 Mar 2020

Keywords

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

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10.1002/ajmg.a.61434

Cite this

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., ... Ratner, N. (2020). The sixth international RASopathies symposium: Precision medicine—From promise to practice. American Journal of Medical Genetics, Part A, 182(3), 597-606. https://doi.org/10.1002/ajmg.a.61434

@article{c736bfd190a040aba97b01abe0e0f992,

title = "The sixth international RASopathies symposium: Precision medicine{\textemdash}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.",

keywords = "Costello syndrome, Noonan syndrome, RASopathy, cardio-facio-cutaneous syndrome, kinases, neurofibromatosis",

author = "Gripp, \{Karen W.\} and Lisa Schill and Lisa Schoyer and Beth Stronach and Bennett, \{Anton M.\} and Susan Blaser and Amanda Brown and Rebecca Burdine and Emma Burkitt-Wright and Pau Castel and Sandra Darilek and Alwyn Dias and Tuesdi Dyer and Michelle Ellis and Gregg Erickson and Gelb, \{Bruce D.\} and Tamar Green and Andrea Gross and Alan Ho and Holder, \{James Lloyd\} and Inoue, \{Shin Ichi\} and Jelin, \{Angie C.\} and Annie Kennedy and Richard Klein and Kontaridis, \{Maria I.\} and Pilar Magoulas and McConnell, \{Darryl B.\} and Frank McCormick and Neel, \{Benjamin G.\} and Prada, \{Carlos E.\} and Rauen, \{Katherine A.\} and Amy Roberts and Pablo Rodriguez-Viciana and Neal Rosen and Gavin Rumbaugh and Anna Sablina and Maja Solman and Marco Tartaglia and Angelica Thomas and Timmer, \{William C.\} and Kartik Venkatachalam and Walsh, \{Karin S.\} and Wolters, \{Pamela L.\} and Yi, \{Jae Sung\} and Martin Zenker and Nancy Ratner",

note = "Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2020",

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doi = "10.1002/ajmg.a.61434",

language = "English",

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Gripp, KW, Schill, L, Schoyer, L, Stronach, B, Bennett, AM, Blaser, S, Brown, A, Burdine, R, Burkitt-Wright, E, Castel, P, Darilek, S, Dias, A, Dyer, T, Ellis, M, Erickson, G, Gelb, BD, Green, T, Gross, A, Ho, A, Holder, JL, Inoue, SI, Jelin, AC, Kennedy, A, Klein, R, Kontaridis, MI, Magoulas, P, McConnell, DB, McCormick, F, Neel, BG, Prada, CE, Rauen, KA, Roberts, A, Rodriguez-Viciana, P, Rosen, N, Rumbaugh, G, Sablina, A, Solman, M, Tartaglia, M, Thomas, A, Timmer, WC, Venkatachalam, K, Walsh, KS, Wolters, PL, Yi, JS, Zenker, M & Ratner, N 2020, 'The sixth international RASopathies symposium: Precision medicine—From promise to practice', American Journal of Medical Genetics, Part A, vol. 182, no. 3, pp. 597-606. https://doi.org/10.1002/ajmg.a.61434

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AU - Schill, Lisa

AU - Schoyer, Lisa

AU - Stronach, Beth

AU - Bennett, Anton M.

AU - Blaser, Susan

AU - Brown, Amanda

AU - Burdine, Rebecca

AU - Burkitt-Wright, Emma

AU - Castel, Pau

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AU - Dias, Alwyn

AU - Dyer, Tuesdi

AU - Ellis, Michelle

AU - Erickson, Gregg

AU - Gelb, Bruce D.

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AU - Gross, Andrea

AU - Ho, Alan

AU - Holder, James Lloyd

AU - Inoue, Shin Ichi

AU - Jelin, Angie C.

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AU - Klein, Richard

AU - Kontaridis, Maria I.

AU - Magoulas, Pilar

AU - McConnell, Darryl B.

AU - McCormick, Frank

AU - Neel, Benjamin G.

AU - Prada, Carlos E.

AU - Rauen, Katherine A.

AU - Roberts, Amy

AU - Rodriguez-Viciana, Pablo

AU - Rosen, Neal

AU - Rumbaugh, Gavin

AU - Sablina, Anna

AU - Solman, Maja

AU - Tartaglia, Marco

AU - Thomas, Angelica

AU - Timmer, William C.

AU - Venkatachalam, Kartik

AU - Walsh, Karin S.

AU - Wolters, Pamela L.

AU - Yi, Jae Sung

AU - Zenker, Martin

AU - Ratner, Nancy

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AB - 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.

KW - Costello syndrome

KW - Noonan syndrome

KW - RASopathy

KW - cardio-facio-cutaneous syndrome

KW - kinases

KW - neurofibromatosis

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DO - 10.1002/ajmg.a.61434

M3 - Article

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SN - 1552-4825

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EP - 606

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 3

ER -

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

Abstract

Keywords

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