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Genomic medicine and neurological disease

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Abstract

“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.

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Acknowledgments

P.M.B. is a fellow of the Baylor College of Medicine Medical Scientist Training Program (T32GM007330-34). This work was supported in part by a National Eye Institute (NEI) Training Program Grant (T32EY007102) (P.M.B) from the United States National Institutes of Health (NIH), and by a National Institute of Neurological Disorders and Stroke (NINDS) Grant (R01NS058529) (J.R.L.) from the NIH. J.R.L. is a paid consultant for Athena Diagnostics and Ion Torrent Systems and is a co-inventor on multiple United States and European patents related to molecular diagnostics. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis offered in the Medical Genetics Laboratory.

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  1. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX, 77030, USA

    Philip M. Boone, Wojciech Wiszniewski & James R. Lupski

  2. Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA

    James R. Lupski

  3. Texas Children’s Hospital, Houston, TX, 77030, USA

    James R. Lupski

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  1. Philip M. Boone
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  2. Wojciech Wiszniewski
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Correspondence to James R. Lupski.

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Boone, P.M., Wiszniewski, W. & Lupski, J.R. Genomic medicine and neurological disease. Hum Genet 130, 103–121 (2011). https://doi.org/10.1007/s00439-011-1001-1

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