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 HolderShin 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

School of Medicine

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

6 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 (US)
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 - Mar 1 2020

Keywords

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

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.61434

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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

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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title = "The sixth international RASopathies symposium: Precision medicine—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.",

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AU - Bennett, Anton M.

AU - Blaser, Susan

AU - Brown, Amanda

AU - Burdine, Rebecca

AU - Burkitt-Wright, Emma

AU - Castel, Pau

AU - Darilek, Sandra

AU - Dias, Alwyn

AU - Dyer, Tuesdi

AU - Ellis, Michelle

AU - Erickson, Gregg

AU - Gelb, Bruce D.

AU - Green, Tamar

AU - Gross, Andrea

AU - Ho, Alan

AU - Holder, James Lloyd

AU - Inoue, Shin Ichi

AU - Jelin, Angie C.

AU - Kennedy, Annie

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

Abstract

Keywords

ASJC Scopus subject areas

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