Abstract
This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer. The RAS pathway is a well-known oncogenic pathway that is commonly found to be activated in somatic malignancies. As in somatic cancers, the RASopathies can be caused by various pathogenetic mechanisms that ultimately impact or alter the normal function and regulation of the MAPK pathway. As such, the RASopathies represent an excellent model of study to explore the intersection of the effects of dysregulation and its consequence in both development and oncogenesis.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 2924-2929 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 176 |
| Issue number | 12 |
| DOIs | |
| State | Published - Dec 2018 |
All Science Journal Classification (ASJC) codes
- Genetics(clinical)
- Genetics
Keywords
- Costello syndrome
- Legius syndrome
- Noonan syndrome
- RAS/MAPK
- RASopathies
- cardio-facio-cutaneous syndrome
- clinical trial
- neurofibromatosis type 1
- signal transduction pathway
- therapy
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In: American Journal of Medical Genetics, Part A, Vol. 176, No. 12, 12.2018, p. 2924-2929.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - Proceedings of the fifth international RASopathies symposium
T2 - When development and cancer intersect
AU - Rauen, Katherine A.
AU - Schoyer, Lisa
AU - Schill, Lisa
AU - Stronach, Beth
AU - Albeck, John
AU - Andresen, Brage S.
AU - Cavé, Hélène
AU - Ellis, Michelle
AU - Fruchtman, Steven M.
AU - Gelb, Bruce D.
AU - Gibson, Christopher C.
AU - Gripp, Karen
AU - Hefner, Erin
AU - Huang, William Y.C.
AU - Itkin, Maxim
AU - Kerr, Bronwyn
AU - Linardic, Corinne M.
AU - McMahon, Martin
AU - Oberlander, Beverly
AU - Perlstein, Ethan
AU - Ratner, Nancy
AU - Rogers, Leslie
AU - Schenck, Annette
AU - Shankar, Suma
AU - Shvartsman, Stanislav
AU - Stevenson, David A.
AU - Stites, Edward C.
AU - Stork, Philip J.S.
AU - Sun, Cheng
AU - Therrien, Marc
AU - Ullian, Erik M.
AU - Widemann, Brigitte C.
AU - Yeh, Erika
AU - Zampino, Giuseppe
AU - Zenker, Martin
AU - Timmer, William
AU - McCormick, Frank
N1 - Funding Information: public contributing agencies for the educational grants and awards. This symposium was supported in part by grants from the National Institutes of Health grant number R13CA217038 (L.S.); the March of Dimes Foundation grant number #4-FY17-900; PhRMA; the International Costello Syndrome Support Group; Onconova Therapeutics Inc; Every-Life Foundation for Rare Diseases; University of Alabama at Birmingham, School of Medicine, Department of Genetics; Children's Tumor Foundation; GeneDx; Prevention Genetics; Costello Syndrome Family Network; CFC International; Noonan Syndrome Foundation; and We Work for Health. Work presented at the symposium is supported by the following grants: NIH/NHLBI R35HL135742 (B.D.G.); NIH/NCI under contract U01CA202241 to Jay T. Groves (W.Y.C.H.); NIH/NCI Outstanding Investigator Award 5R35CA197709 (F.M.); NIH/NCI R01CA131261 and R01CA176839 (M.M.); NIH/NIAMS R01AR062165 (K.A.R.); MDBR-17-128-RASopathies and NIH/NCI R21CA191392 (P.J. S.S.); and NIH/NEI P30EY002162 and the Paul Allen Foundation Distinguished Investigator Program (E.M.U.). B.S.A. and his employer, University of Southern Denmark, may receive material benefit if an HRAS exon-skipping therapeutic results from his work. S.M.F. is a full-time employee and stockholder at Onconova Therapeutics. B.D.G. receives royalties from LabCorp, Correlegan, Prevention Genetics, and GeneDx. C.C.G. is a stock owner and Board member of Recursion Pharmaceuticals, a biopharmaceutical company engaged in discovery and development of therapies for rare disease and certain RASopathies. M.I. is a consultant and research grant recipient from Guerbet Corp. M.M. receives honoraria for serving on the following Scientific Advisory Boards: Novartis, Genentech-Roche, Merck, and Kyras Therapeutics. E.P. is a Perlara stockholder and serves on the Board of Directors. Funding Information: The Fifth International RASopathies Symposium: When Development and Cancer Intersect convened on July 28th to July 30th, 2017 in Orlando, Florida, United States. Clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students, and individuals with RASopathies and their families attended. The meeting was chaired by K.A.R. and F.M. Over 150 registrants participated. The overall goal of this 3-day symposium was to provide an open forum for attendees to share and discuss basic science and clinical issues setting forth a solid framework for future research and translational applications for therapy and best practices for individuals with a RASopathy. Educational funds were provided in part by National Institutes of Health grant number R13CA217038; the March of Dimes grant #4-FY17-900, Pharmaceutical Research and Manufacturers of America (PhRMA), International Costello Syndrome Support Group, Onconova Therapeutics Inc, EveryLife Foundation for Rare Diseases, University of Alabama at Birmingham, School of Medicine, Department of Genetics, Children's Tumor Foundation, GeneDx, Prevention Genetics, Cos-tello Syndrome Family Network, CFC International, the Noonan Syndrome Foundation, and We Work for Health. These proceedings provide the clinical and scientific communities with an executive summary of the clinical translational research symposium. Funding Information: information International Costello Syndrome Support Group; March of Dimes Foundation, Grant/Award Number: 4-FY17-900; National Institutes of Health (NIH), Grant/Award Number: 1R13CA217038-01; Onconova Therapeutics, Inc.; PreventionGenetics; University of Alabama at Birmingham, School of Medicine, Department of Genetics; Paul Allen Foundation Distinguished Investigator Program; NIH/National Eye Institute (NEI), Grant/Award Number: P30EY002162; Penn Medicine Orphan Disease Center Million Dollar Bike Ride (MDBR); MDBR-17-128-RASopathies; NIH/National Cancer Institute (NCI), Grant/Award Number: R21CA191392; NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Grant/Award Number: R01AR062165; NIH/NCI Outstanding Investigator Award, Grant/Award Number: 5R35CA197709; NIH/NCI, Grant/Award Number: R01CA131261, R01CA176839 and U01CA202241; NIH/NHLBI, Grant/Award Number: R35HL135742; We Work for Health; Noonan Syndrome Foundation; CFC International; Costello Syndrome Family Network; Prevention Genetics; GeneDx; Children's Tumor Foundation; EveryLife Foundation for Rare Diseases; Onconova Therapeutics Inc; Pharmaceutical Research and Manufacturers of America (PhRMA) We thank all the participants who attended the symposium, which made this event such a success. Funding Information: International Costello Syndrome Support Group; March of Dimes Foundation, Grant/ Award Number: 4-FY17-900; National Institutes of Health (NIH), Grant/Award Number: 1R13CA217038-01; Onconova Therapeutics, Inc.; PreventionGenetics; University of Alabama at Birmingham, School of Medicine, Department of Genetics; Paul Allen Foundation Distinguished Investigator Program; NIH/National Eye Institute (NEI), Grant/Award Number: P30EY002162; Penn Medicine Orphan Disease Center Million Dollar Bike Ride (MDBR); MDBR- 17-128-RASopathies; NIH/National Cancer Institute (NCI), Grant/Award Number: R21CA191392; NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Grant/Award Number: R01AR062165; NIH/NCI Outstanding Investigator Award, Grant/Award Number: 5R35CA197709; NIH/NCI, Grant/Award Number: R01CA131261, R01CA176839 and U01CA202241; NIH/NHLBI, Grant/Award Number: R35HL135742; We Work for Health; Noonan Syndrome Foundation; CFC International; Costello Syndrome Family Network; Prevention Genetics; GeneDx; Children's Tumor Foundation; EveryLife Foundation for Rare Diseases; Onconova Therapeutics Inc; Pharmaceutical Research and Manufacturers of America (PhRMA) Publisher Copyright: © 2018 Wiley Periodicals, Inc.
PY - 2018/12
Y1 - 2018/12
N2 - This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer. The RAS pathway is a well-known oncogenic pathway that is commonly found to be activated in somatic malignancies. As in somatic cancers, the RASopathies can be caused by various pathogenetic mechanisms that ultimately impact or alter the normal function and regulation of the MAPK pathway. As such, the RASopathies represent an excellent model of study to explore the intersection of the effects of dysregulation and its consequence in both development and oncogenesis.
AB - This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer. The RAS pathway is a well-known oncogenic pathway that is commonly found to be activated in somatic malignancies. As in somatic cancers, the RASopathies can be caused by various pathogenetic mechanisms that ultimately impact or alter the normal function and regulation of the MAPK pathway. As such, the RASopathies represent an excellent model of study to explore the intersection of the effects of dysregulation and its consequence in both development and oncogenesis.
KW - Costello syndrome
KW - Legius syndrome
KW - Noonan syndrome
KW - RAS/MAPK
KW - RASopathies
KW - cardio-facio-cutaneous syndrome
KW - clinical trial
KW - neurofibromatosis type 1
KW - signal transduction pathway
KW - therapy
UR - http://www.scopus.com/inward/record.url?scp=85054625782&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85054625782&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.40632
DO - 10.1002/ajmg.a.40632
M3 - Article
C2 - 30302932
AN - SCOPUS:85054625782
SN - 1552-4825
VL - 176
SP - 2924
EP - 2929
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 12
ER -