First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics

Autor: Vijaya Ramesh, D. Gareth Evans, Susan M Huson, Jaishri O. Blakeley, Joshi George, Ludwine Messiaen, Ype Elgersma, Rick van Minkelen, Pierre Wolkenstein, Eric Legius, Meena Upadhyaya, Shay Ben-Shachar, Anup Raji, Bruce R. Korf, Ratna Dua Puri, Katherine A. Rauen, Luis F. Parada, Miikka Vikkula, Brigitte C. Widemann, Shubha R. Phadke, Sheetal Sharda, Sheela Nampoothiri, Michael Fisher, Isabel Cordeiro, Abeer Al-Saegh, Ashok Pillai, Ian M. Frayling, Suma P. Shankar, Nancy Ratner, Scott R. Plotkin, Yemima Berman, Anant Tambe, Uday Khire, Bronwyn Kerr, Joanne Ngeow
Přispěvatelé: Lee Kong Chian School of Medicine (LKCMedicine), First International Conference on RASopathies and Neurofibromatoses in Asia, Neurosciences
Jazyk: angličtina
Rok vydání: 2019
Předmět:
0301 basic medicine
medicine.medical_specialty
Biomedical
Neurofibromatoses
Intellectual and Developmental Disabilities (IDD)
Clinical Sciences
030105 genetics & heredity
RASopathy
Article
Neurofibromatosis
03 medical and health sciences
Congenital
Rare Diseases
Costello syndrome
Translational Research
medicine
Genetics
Humans
Genetic Predisposition to Disease
Medicine [Science]
Molecular Targeted Therapy
Schwannomatosis
Genetics (clinical)
Genetic Association Studies
Legius syndrome
Pediatric
therapy
business.industry
Neurosciences
Disease Management
signal transduction pathway
medicine.disease
Dermatology
Clinical Trial
Brain Disorders
030104 developmental biology
Molecular Diagnostic Techniques
ras Proteins
Noonan syndrome
Mitogen-Activated Protein Kinases
business
Noonan Syndrome with Multiple Lentigines
Biomarkers
Signal Transduction
Zdroj: Am J Med Genet A
American journal of medical genetics. Part A, vol 179, iss 6
American Journal of Medical Genetics Part A, 179(6), 1091-1097. Wiley-Liss Inc.
ISSN: 1552-4825
Popis: 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. 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
Databáze: OpenAIRE
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