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

^*Corresponding author for this work

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

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
Publication status	Published - Mar 2020

Keywords

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

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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

@article{ffed19489c4a4961b13376da83d7a3cd,

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.",

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

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 = "Funding Information: In addition to the NIH (1R13TR002780-01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Funding Information: In addition to the NIH (1R13TR002780‐01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2020",

month = mar,

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

language = "English",

volume = "182",

pages = "597--606",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "3",

}

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

TY - JOUR

T1 - The sixth international RASopathies symposium

T2 - Precision medicine—From promise to practice

AU - Gripp, Karen W.

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

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

N1 - Funding Information: In addition to the NIH (1R13TR002780-01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Funding Information: In addition to the NIH (1R13TR002780‐01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Publisher Copyright: © 2019 Wiley Periodicals, Inc.

PY - 2020/3

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N2 - 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.

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 - cardio-facio-cutaneous syndrome

KW - Costello syndrome

KW - kinases

KW - neurofibromatosis

KW - Noonan syndrome

KW - RASopathy

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U2 - 10.1002/ajmg.a.61434

DO - 10.1002/ajmg.a.61434

M3 - Article

C2 - 31825160

AN - SCOPUS:85076852114

SN - 1552-4825

VL - 182

SP - 597

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

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Keywords

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