TY - JOUR
T1 - First International Conference on RASopathies and Neurofibromatoses in Asia
T2 - Identification and advances of new therapeutics
AU - Rauen, Katherine A.
AU - Alsaegh, Abeer
AU - Ben-Shachar, Shay
AU - Berman, Yemima
AU - Blakeley, Jaishri
AU - Cordeiro, Isabel
AU - Elgersma, Ype
AU - Evans, D. Gareth
AU - Fisher, Michael J.
AU - Frayling, Ian M.
AU - George, Joshi
AU - Huson, Susan M.
AU - Kerr, Bronwyn
AU - Khire, Uday
AU - Korf, Bruce
AU - Legius, Eric
AU - Messiaen, Ludwine
AU - van Minkelen, Rick
AU - Nampoothiri, Sheela
AU - Ngeow, Joanne
AU - Parada, Luis F.
AU - Phadke, Shubha
AU - Pillai, Ashok
AU - Plotkin, Scott R.
AU - Puri, Ratna
AU - Raji, Anup
AU - Ramesh, Vijaya
AU - Ratner, Nancy
AU - Shankar, Suma P.
AU - Sharda, Sheetal
AU - Tambe, Anant
AU - Vikkula, Miikka
AU - Widemann, Brigitte C.
AU - Wolkenstein, Pierre
AU - Upadhyaya, Meena
N1 - Funding Information:
Children’s Tumor Foundation; Fonds De La Recherche Scientifique - FNRS, Grant/Award Numbers: T002614, T024719F; Manchester NIHR Biomedical Research Centre, Grant/ Award Number: IS-BRC-1215-20007; NIH/NIAMS, Grant/Award Number: R01AR062165; Axis Health Biomedicals and the Doctor's Academy; Schiller India; MedGenome; Wales Gene Park; University of Wales Trinity Saint David; Cardiff University; AstraZeneca
Funding Information:
We thank all the participants who attended the symposium which made this event such a success. We are grateful for all educational grants and awards. Educational funds were provided in part by AstraZeneca, Cardiff University, Children's Tumor Foundation, University of Wales Trinity Saint David, Wales Gene Park, MedGenome, Schiller India, Axis Health Biomedicals and the Doctor's Academy. Additionally, we thank Professor Ishwar Verma, Angela Burgess and Ian Owen Funds. Work presented at the symposium is supported in part by the following grants: NIH/NIAMS R01AR062165 (K.A.R.); All Manchester NIHR Biomedical Research Centre IS-BRC-1215-20007 (D.G.E.); Fonds de la Recherche Scientifique T002614 and T024719F (M.V.); The Isaac and Sadie Fuchs Genotype-Phenotype Study—Children's Tumor Foundation (L.M.). Uday Khire is a majority shareholder and CEO of Allomek Therapeutics. Bruce Korf is a medical advisory board member for AstraZeneca. Sheetal Sharda consults for MEDGENOME Labs. Pierre Wolkenstein is associated with Pierre Fabre Dermatologie and AstraZeneca. Jaishi Blakely/Gareth Evans/Kate Rauen/Scott Plotkin reviewed partial travel support from AstraZeneca. Scott Plotkin is co-founder of Nflection Therapeutics.
Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/6
Y1 - 2019/6
N2 - The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.
AB - The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.
KW - RASopathy
KW - clinical trial
KW - neurofibromatoses
KW - signal transduction pathway
KW - therapy
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U2 - 10.1002/ajmg.a.61125
DO - 10.1002/ajmg.a.61125
M3 - Article
C2 - 30908877
AN - SCOPUS:85063366019
VL - 179
SP - 1091
EP - 1097
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 6
ER -