456
SPTBN2, SACS, MRE11, KCNC3 and DARS2 of which nine were novel including
one causing a newly described recessive ataxia syndrome. Genetic testing using
targeted capture followed by NGS was effi cient, cost-effective, and enabled a
molecular diagnosis in many refractory cases. A specifi c challenge of NGS data is
pathogenicity interpretation, but functional analysis confi rmed the pathogenicity of
novel variants. The results have broad implications for neurology practice and the
approach to diagnostics.
Future Prospects of Personalized Neurology
Personalized management of neurological disorders integrates several biotechnolo-
gies. Genomics plays an important role although there is inadequate information
about relation of gene mutations to some disorders as well as to the action of drugs.
Genomic biomarkers for diagnosis may also act as targets for developing personal-
ized therapies. Pharmacogenetics and pharmacogenomics of analgesic drugs is also
deserves attention while selecting a drug best suited to an individual patient.
Currently, the application of genomics in clinical practice is limited but consider-
able research is ongoing and routine use in diagnosis and treatment of neurological
disorders is expected in the second decade of the twenty-fi rst century.
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12 Personalized Management of Neurological Disorders