First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics
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 componen...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Conference Paper |
| Language: | English |
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2021
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| Online Access: | https://hdl.handle.net/10356/146949 |
| _version_ | 1811697676444499968 |
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| author | Rauen, Katherine A Alsaegh, Abeer Ben-Shachar, Shay Berman, Yemima Blakeley, Jaishri Cordeiro, Isabel Elgersma, Ype Evans, D Gareth Fisher, Michael J Frayling, Ian M George, Joshi Huson, Susan M Kerr, Bronwyn Khire, Uday Korf, Bruce Legius, Eric Messiaen, Ludwine van Minkelen, Rick Nampoothiri, Sheela Ngeow, Joanne Parada, Luis F Phadke, Shubha Pillai, Ashok Plotkin, Scott R Puri, Ratna Raji, Anup Ramesh, Vijaya Ratner, Nancy Shankar, Suma P Sharda, Sheetal Tambe, Anant Vikkula, Miikka Widemann, Brigitte C Wolkenstein, Pierre Upadhyaya, Meena |
| author2 | Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet | Lee Kong Chian School of Medicine (LKCMedicine) Rauen, Katherine A Alsaegh, Abeer Ben-Shachar, Shay Berman, Yemima Blakeley, Jaishri Cordeiro, Isabel Elgersma, Ype Evans, D Gareth Fisher, Michael J Frayling, Ian M George, Joshi Huson, Susan M Kerr, Bronwyn Khire, Uday Korf, Bruce Legius, Eric Messiaen, Ludwine van Minkelen, Rick Nampoothiri, Sheela Ngeow, Joanne Parada, Luis F Phadke, Shubha Pillai, Ashok Plotkin, Scott R Puri, Ratna Raji, Anup Ramesh, Vijaya Ratner, Nancy Shankar, Suma P Sharda, Sheetal Tambe, Anant Vikkula, Miikka Widemann, Brigitte C Wolkenstein, Pierre Upadhyaya, Meena |
| author_sort | Rauen, Katherine A |
| collection | NTU |
| description | 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. |
| first_indexed | 2024-10-01T07:59:03Z |
| format | Conference Paper |
| id | ntu-10356/146949 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T07:59:03Z |
| publishDate | 2021 |
| record_format | dspace |
| spelling | ntu-10356/1469492021-03-15T06:47:29Z First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics Rauen, Katherine A Alsaegh, Abeer Ben-Shachar, Shay Berman, Yemima Blakeley, Jaishri Cordeiro, Isabel Elgersma, Ype Evans, D Gareth Fisher, Michael J Frayling, Ian M George, Joshi Huson, Susan M Kerr, Bronwyn Khire, Uday Korf, Bruce Legius, Eric Messiaen, Ludwine van Minkelen, Rick Nampoothiri, Sheela Ngeow, Joanne Parada, Luis F Phadke, Shubha Pillai, Ashok Plotkin, Scott R Puri, Ratna Raji, Anup Ramesh, Vijaya Ratner, Nancy Shankar, Suma P Sharda, Sheetal Tambe, Anant Vikkula, Miikka Widemann, Brigitte C Wolkenstein, Pierre Upadhyaya, Meena Lee Kong Chian School of Medicine (LKCMedicine) First International Conference on RASopathies and Neurofibromatoses in Asia Science::Medicine Clinical Trial Neurofibromatoses 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 2021-03-15T06:47:29Z 2021-03-15T06:47:29Z 2019 Conference Paper Rauen, K. A., Alsaegh, A., Ben-Shachar, S., Berman, Y., Blakeley, J., Cordeiro, I., Elgersma, Y., Evans, D. G., Fisher, M. J., Frayling, I. M., George, J., Huson, S. M., Kerr, B., Khire, U., Korf, B., Legius, E., Messiaen, L., van Minkelen, R., Nampoothiri, S., ...Upadhyaya, M. (2019). First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics. First International Conference on RASopathies and Neurofibromatoses in Asia, 179, 1091-1097. https://dx.doi.org/10.1002/ajmg.a.61125 https://hdl.handle.net/10356/146949 10.1002/ajmg.a.61125 30908877 2-s2.0-85063366019 179 1091 1097 en © 2019 Wiley Periodicals, Inc. All rights reserved. |
| spellingShingle | Science::Medicine Clinical Trial Neurofibromatoses Rauen, Katherine A Alsaegh, Abeer Ben-Shachar, Shay Berman, Yemima Blakeley, Jaishri Cordeiro, Isabel Elgersma, Ype Evans, D Gareth Fisher, Michael J Frayling, Ian M George, Joshi Huson, Susan M Kerr, Bronwyn Khire, Uday Korf, Bruce Legius, Eric Messiaen, Ludwine van Minkelen, Rick Nampoothiri, Sheela Ngeow, Joanne Parada, Luis F Phadke, Shubha Pillai, Ashok Plotkin, Scott R Puri, Ratna Raji, Anup Ramesh, Vijaya Ratner, Nancy Shankar, Suma P Sharda, Sheetal Tambe, Anant Vikkula, Miikka Widemann, Brigitte C Wolkenstein, Pierre Upadhyaya, Meena First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics |
| title | First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics |
| title_full | First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics |
| title_fullStr | First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics |
| title_full_unstemmed | First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics |
| title_short | First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics |
| title_sort | first international conference on rasopathies and neurofibromatoses in asia identification and advances of new therapeutics |
| topic | Science::Medicine Clinical Trial Neurofibromatoses |
| url | https://hdl.handle.net/10356/146949 |
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