Genomic medicine and neurological disease

被引：14

作者：

Boone, Philip M. ^{[1
]}

Wiszniewski, Wojciech ^{[1
]}

Lupski, James R. ^{[1
,2
,3
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[3] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

HUMAN GENETICS | 2011年 / 130卷 / 01期

基金：

美国国家卫生研究院;

关键词：

DUCHENNE MUSCULAR-DYSTROPHY; VITAMIN-E-DEFICIENCY; SYMMETRIC POLYNEUROPATHY ROLE; PRACTICE PARAMETER EVALUATION; COPY NUMBER VARIATION; MULTIPLE-SCLEROSIS; ELECTRODIAGNOSTIC MEDICINE; HEREDITARY NEUROPATHY; AMERICAN ASSOCIATION; DNA REARRANGEMENTS;

D O I：

10.1007/s00439-011-1001-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

"Genomic medicine" refers to the diagnosis, optimized management, and treatment of disease-as well as screening, counseling, and disease gene identification-in the context of information provided by an individual patient's personal genome. Genomic medicine, to some extent synonymous with "personalized medicine," has been made possible by recent advances in genome technologies. Genomic medicine represents a new approach to health care and disease management that attempts to optimize the care of a patient based upon information gleaned from his or her personal genome sequence. In this review, we describe recent progress in genomic medicine as it relates to neurological disease. Many neurological disorders either segregate as Mendelian phenotypes or occur sporadically in association with a new mutation in a single gene. Heritability also contributes to other neurological conditions that appear to exhibit more complex genetics. In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds.

引用

页码：103 / 121

页数：19

共 155 条

[1] Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule [J].

Aartsma-Rus, Annemieke ;

Van Deutekom, Judith C. T. ;

Fokkema, Ivo F. ;

Van Ommen, Gert-Jan B. ;

Den Dunnen, Johan T. .

MUSCLE & NERVE, 2006, 34 (02) :135-144

[2] The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group [J].

Ahn, Sung-Min ;

Kim, Tae-Hyung ;

Lee, Sunghoon ;

Kim, Deokhoon ;

Ghang, Ho ;

Kim, Dae-Soo ;

Kim, Byoung-Chul ;

Kim, Sang-Yoon ;

Kim, Woo-Yeon ;

Kim, Chulhong ;

Park, Daeui ;

Lee, Yong Seok ;

Kim, Sangsoo ;

Reja, Rohit ;

Jho, Sungwoong ;

Kim, Chang Geun ;

Cha, Ji-Young ;

Kim, Kyung-Hee ;

Lee, Bonghee ;

Bhak, Jong ;

Kim, Seong-Jin .

GENOME RESEARCH, 2009, 19 (09) :1622-1629

[3] Direct selection of human genomic loci by microarray hybridization [J].

Albert, Thomas J. ;

Molla, Michael N. ;

Muzny, Donna M. ;

Nazareth, Lynne ;

Wheeler, David ;

Song, Xingzhi ;

Richmond, Todd A. ;

Middle, Chris M. ;

Rodesch, Matthew J. ;

Packard, Charles J. ;

Weinstock, George M. ;

Gibbs, Richard A. .

NATURE METHODS, 2007, 4 (11) :903-905

[4] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[5] Integrating common and rare genetic variation in diverse human populations [J].

Altshuler, David M. ;

Gibbs, Richard A. ;

Peltonen, Leena ;

Dermitzakis, Emmanouil ;

Schaffner, Stephen F. ;

Yu, Fuli ;

Bonnen, Penelope E. ;

de Bakker, Paul I. W. ;

Deloukas, Panos ;

Gabriel, Stacey B. ;

Gwilliam, Rhian ;

Hunt, Sarah ;

Inouye, Michael ;

Jia, Xiaoming ;

Palotie, Aarno ;

Parkin, Melissa ;

Whittaker, Pamela ;

Chang, Kyle ;

Hawes, Alicia ;

Lewis, Lora R. ;

Ren, Yanru ;

Wheeler, David ;

Muzny, Donna Marie ;

Barnes, Chris ;

Darvishi, Katayoon ;

Hurles, Matthew ;

Korn, Joshua M. ;

Kristiansson, Kati ;

Lee, Charles ;

McCarroll, Steven A. ;

Nemesh, James ;

Keinan, Alon ;

Montgomery, Stephen B. ;

Pollack, Samuela ;

Price, Alkes L. ;

Soranzo, Nicole ;

Gonzaga-Jauregui, Claudia ;

Anttila, Verneri ;

Brodeur, Wendy ;

Daly, Mark J. ;

Leslie, Stephen ;

McVean, Gil ;

Moutsianas, Loukas ;

Nguyen, Huy ;

Zhang, Qingrun ;

Ghori, Mohammed J. R. ;

McGinnis, Ralph ;

McLaren, William ;

Takeuchi, Fumihiko ;

Grossman, Sharon R. .

NATURE, 2010, 467 (7311) :52-58

[6] A rapid microarray based whole genome analysis for detection of uniparental disomy [J].

Altug-Teber, Ö ;

Dufke, A ;

Poths, S ;

Mau-Holzmann, UA ;

Bastepe, M ;

Colleaux, L ;

Cormier-Daire, V ;

Eggermann, T ;

Gillessen-Kaesbach, G ;

Bonin, M ;

Riess, O .

HUMAN MUTATION, 2005, 26 (02) :153-159

[7] FAMILIAL ISOLATED VITAMIN-E-DEFICIENCY - EXTENSIVE STUDY OF A LARGE FAMILY WITH A 5-YEAR THERAPEUTIC FOLLOW-UP [J].

AMIEL, J ;

MAZIERE, JC ;

BEUCLER, I ;

KOENIG, M ;

REUTENAUER, L ;

LOUX, N ;

BONNEFONT, D ;

FEO, C ;

LANDRIEU, P .

JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (03) :333-340

[8] Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene [J].

Andersen, Peter M. .

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2006, 6 (01) :37-46

[9] Pharmacokinetic, pharmacodynamic, and pharmacogenetic targeted therapy of antiepileptic drugs [J].

Anderson, Gail D. .

THERAPEUTIC DRUG MONITORING, 2008, 30 (02) :173-180

[10] Genome Medicine: past, present and future [J].

Auffray, Charles ;

Caulfield, Timothy ;

Khoury, Muin J. ;

Lupski, James R. ;

Schwab, Matthias ;

Veenstra, Timothy .

GENOME MEDICINE, 2011, 3

← 1 2 3 4 5 6 7 8 9 10 →