Genomic medicine and neurological disease

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

Research output: Contribution to journalReview article

15 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)103-121
Number of pages19
JournalHuman Genetics
Volume130
Issue number1
DOIs
StatePublished - Jul 2011
Externally publishedYes

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Medicine
Genome
Disease Management
Precision Medicine
Nervous System Diseases
Genes
Counseling
Patient Care
Technology
Delivery of Health Care
Phenotype
Mutation
Therapeutics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Genomic medicine and neurological disease. / Boone, Philip M.; Wiszniewski, Wojciech; Lupski, James R.

In: Human Genetics, Vol. 130, No. 1, 07.2011, p. 103-121.

Research output: Contribution to journalReview article

Boone, Philip M. ; Wiszniewski, Wojciech ; Lupski, James R. / Genomic medicine and neurological disease. In: Human Genetics. 2011 ; Vol. 130, No. 1. pp. 103-121.
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