Textbook of Personalized Medicine - Second Edition [2015]

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which are responsible for the underlying disorder. The high number of rare, heteroge-
neous mutations present in all humans and the paucity of known functional variants
in >90 % of annotated genes make this challenge particularly diffi cult.
Role of neurogenomics in the development of personalized neurology is shown
schematically in Fig. 12.2 and various applications of neurogenomics are listed in
Table 12.1. Role of neurogenomics will be described in the following sections along
with the personalized management of various disorders. Many other factors besides
genomics are taken into consideration in tailoring the treatment to an individual patient.


Neurogenomics

Personalized
Neurology

Sequencing

Gene therapy
CNS disorders

Synthetic
biology

Biomarkers

Pharmacogenomics
CNS drug discovery
& development

Genetic
screening

Molecular
diagnosis

Molecular
neuropathology

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Fig. 12.2 Role of neurogenomics in the development of personalized neurology


Table 12.1 Applications of genomics in neurology
Basic neurosciences
Molecular neuropathology
Study of genes for neurologic disorders
Genomic studies of nonhuman organisms relevant to neurology
Creation of transgenic models of neurologic disorders
Brain mapping
Diagnosis of neurologic disorders
Redefi nition and reclassifi cation of disease
Molecular diagnostics
Biomarkers
Integration of diagnostics and therapeutics
Neurotherapeutics
Molecular neuropharmacology
Drug discovery and development
Gene therapy
Personalized neurology
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Neurogenomics

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