Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1091-1097 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 179 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 1 2019 |
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Keywords
- clinical trial
- neurofibromatoses
- RASopathy
- signal transduction pathway
- therapy
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
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.
In: American Journal of Medical Genetics, Part A, Vol. 179, No. 6, 01.06.2019, p. 1091-1097.Research output: Contribution to journal › Article
}
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
PY - 2019/6/1
Y1 - 2019/6/1
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 - clinical trial
KW - neurofibromatoses
KW - RASopathy
KW - signal transduction pathway
KW - therapy
UR - http://www.scopus.com/inward/record.url?scp=85063366019&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85063366019&partnerID=8YFLogxK
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 -