Journal ArticleDOI
Genomic medicine and neurology.
Jeffery M. Vance,Demet Tekin +1 more
- Vol. 17, Iss: 2, pp 249-267
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This article provides some basic information about genomic medicine and pharmacogenetics in neurology to help neurologists to begin to adopt these principles into their practice.Abstract:
The application of genetics to the understanding of neurology has been highly successful over the past several decades. During the past 10 years, tools were developed to begin genetic investigations into more common disorders such as Alzheimer disease, multiple sclerosis, autism, and Parkinson disease. The era of genomic medicine now has begun and will have an increasing effect on the daily care of common neurologic diseases. Thus it is important for neurologists to have a basic understanding of genomic medicine and how it differs from the traditional clinical genetics of the past. This article provides some basic information about genomic medicine and pharmacogenetics in neurology to help neurologists to begin to adopt these principles into their practice.read more
Citations
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Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
TL;DR: The history of CMT gene discoveries is reviewed, starting with technologies from the early days in human genetics through the high-throughput application of modern DNA analyses, and some of which provide promising treatment strategies are highlighted.
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Importance of pedigree in patients with familial epilepsy and intellectual disability.
TL;DR: It is suggested that a three-generation pedigree analysis should be obtained in all patients with familial neurological disorders, including epilepsy, ID/GDD and motor retardation, to optimise counselling, screening and diagnostic testing.
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Advising patients about obtaining genomic profiles
Donna T. Chen,Lois Shepherd +1 more
TL;DR: As genomic research and direct-to-consumer opportunities to obtain genomic information expand, reliance on personal physicians for ethical advice based on current advancements in genomic profiling should be anticipated.
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The documentation of consent and disclosure of neurogenetic testing outside clinical genetics.
TL;DR: The findings highlight the need for a review of established practices surrounding consent in clinical neurology and suggest that the higher proportion of both positive and negative results disclosed may underestimate actual rates of undocumented consent within the clinical setting.
Book ChapterDOI
Pharmacogenomics and Personalized Medicine in Alzheimer’s Disease
Trevor Archer,Boo Johansson +1 more
TL;DR: The search for individual-based medication seeks to establish a “reregulation” of destructive β-amyloid pathways, an understanding and application of Aβ-linked immunotherapy, the initiation and formulation of pharmacogenetic/pharmacogenomics principles and methodologies, the emergence of the role of apolipoprotein (APOE) in therapeutic endeavor, the assessment and treatment of behavioral and psychological symptoms.
References
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