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The International Journal of the Royal Society of Thailand
Volume XI - 2019
severe disability and early death in affected individuals due to progressive loss
of neurons in the brain and spinal cord. The process is associated with genetic
variation, environment, lifestyle, infection, etc. (Strafella, et al., 2018).
Important steps in precision medicine in neurological disease
1. Comprehensive genetic assessment
Clinical and genetic evaluation are critical for establishing the
diagnosis in both common and uncommon conditions. New techniques
in microarray, next generation sequencing (NGS), genome-wide
associated studies (GWAS) will help identifying specific mutations in
common disease and genetic variation (polymorphism) in general
population. This information will certainly increase the diagnostic
certainty and define population at risk for disease prevention. (Tan,
et al, 2016).
2. Classification
Genetic information will provide more accurate disease classification,
instead of a clinical classification which is now commonly used.
Homogeneity in study population will aid in study design to reduce
bias and confounding factors and finally lead to better result.
3. Biomarkers
Biomarkers are more important than ever in doing clinical
research. It can be surrogate or final outcome in both short and long term
studies. In neurological disease, there are blood based or CSF based
biomarkers, clinical neurophysiology, MRI scan or function neuroimaging.
These modalities can also track the changes in long term study and
define the natural history in many neurodegenerative disease.
4. New therapeutic strategies
Overall updated information will lead to new therapeutic strategies
to slow or stop disease progression, especially neuronal degeneration.
More specific or tailored-made medications or interventions are more
commonly used toward personalized medicine concept.
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