The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Toward a Therapeutic Approach

被引：7

作者：

Korf, Bruce ^{[1
]}

Ahmadian, Reza ^{[2
]}

Allanson, Judith ^{[3
]}

Aoki, Yoko ^{[4
]}

Bakker, Annette ^{[5
]}

Wright, Emma Burkitt ^{[6
,7
]}

Denger, Brian ^{[8
]}

Elgersma, Ype ^{[9
]}

Gelb, Bruce D. ^{[10
]}

Gripp, Karen W. ^{[11
]}

Kerr, Bronwyn ^{[12
]}

Kontaridis, Maria ^{[13
,14
]}

Lazaro, Conxi ^{[15
]}

Linardic, Corinne ^{[16
]}

Lozano, Reymundo ^{[17
]}

MacRae, Calum A. ^{[13
,18
]}

Messiaen, Ludwine ^{[1
]}

Mulero-Navarro, Sonia ^{[10
]}

Neel, Benjamin ^{[19
]}

Plotkin, Scott ^{[20
]}

Rauen, Katherine A. ^{[21
]}

Roberts, Amy ^{[13
,22
]}

Silva, Alcino J. ^{[23
]}

Sittampalam, Sitta G. ^{[24
]}

Zhang, Chao ^{[25
]}

Schoyer, Lisa ^{[26
]}

机构：

[1] Univ Alabama Birmingham, Birmingham, AL USA

[2] Univ Dusseldorf, Dusseldorf, Germany

[3] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada

[4] Tohoku Univ, Sch Med, Sendai, Miyagi 980, Japan

[5] Childrens Tumor Fdn, New York, NY USA

[6] Manchester Ctr Genom Med, Manchester, Lancs, England

[7] Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England

[8] Parent Project Muscular Dystrophy, Hackensack, NJ USA

[9] Erasmus Univ, NL-3000 DR Rotterdam, Netherlands

[10] Icahn Sch Med Mt Sinai, New York, NY 10029 USA

[11] Alfred I DuPont Hosp Children, Wilmington, NC USA

[12] Manchester Ctr Genom Med, Manchester, Lancs, England

[13] Harvard Univ, Sch Med, Boston, MA USA

[14] Beth Israel Deaconess Med Canc Ctr, Boston, MA USA

[15] Catalan Inst Oncol ICO IDIBELL, Barcelona, Spain

[16] Duke Univ, Sch Med, Durham, NC USA

[17] UC Calif, Davis, CA USA

[18] Brigham & Womens Hosp, Boston, MA 02115 USA

[19] Univ Hlth Network, Princess Margaret Canc Ctr, Toronto, ON, Canada

[20] Massachusetts Gen Hosp, Boston, MA 02114 USA

[21] Univ Calif Davis, Davis MIND Inst, Sacramento, CA 95817 USA

[22] Boston Childrens Hosp, Boston, MA USA

[23] Univ Calif Los Angeles, Los Angeles, CA USA

[24] NIH, NCATS, Baltimore, MD USA

[25] Plexxikon Inc, Berkeley, CA USA

[26] RASopathies Network USA, Altadena, CA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 08期

关键词：

Ras; neurofibromatosis; noonan syndrome; costello syndrome; cardio-facio-cutaneous syndrome; NOONAN SYNDROME; GERMLINE MUTATIONS; CANCER; SPECTRUM; GAIN;

D O I：

10.1002/ajmg.a.37089

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

"The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach" was held at the Renaissance Orlando at SeaWorld Hotel (August 2-4, 2013). Seventy-one physicians and scientists attended the meeting, and parallel meetings were held by patient advocacy groups (CFC International, Costello Syndrome Family Network, NF Network and Noonan Syndrome Foundation). Parent and patient advocates opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes, to identification of therapeutic targets in the RAS/MAPK pathway, to preclinical drug development and testing, to clinical trials. These proceedings will review the major points of discussion. (C) 2015 Wiley Periodicals, Inc.

引用

页码：1741 / 1746

页数：6