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 - 2020/3/1
Y1 - 2020/3/1
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 - Costello syndrome
KW - Noonan syndrome
KW - RASopathy
KW - cardio-facio-cutaneous syndrome
KW - kinases
KW - neurofibromatosis
UR - http://www.scopus.com/inward/record.url?scp=85076852114&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85076852114&partnerID=8YFLogxK
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 -