caa a22 4500 445860588 CHVBK 20180317145441.0 cr unu---uuuuu 170323e20110701xx s 000 0 eng 10.1007/s00439-011-1001-1 doi (NATIONALLICENCE)springer-10.1007/s00439-011-1001-1 Genomic medicine and neurological disease [Elektronische Daten] [Philip Boone, Wojciech Wiszniewski, James Lupski] "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. Springer-Verlag, 2011 Boone Philip Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, 77030, Houston, TX, USA aut Wiszniewski Wojciech Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, 77030, Houston, TX, USA aut Lupski James Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, 77030, Houston, TX, USA aut Human Genetics Springer-Verlag 130/1(2011-07-01), 103-121 0340-6717 130:1<103 2011 130 439 https://doi.org/10.1007/s00439-011-1001-1 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-1001-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Boone Philip Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Wiszniewski Wojciech Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Lupski James Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, 77030, Houston, TX, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/1(2011-07-01), 103-121 0340-6717 130:1<103 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer