"Retrofitting" established genetic disorders and diseases through big data and phenomics

Throughout the history and evolution of medical diagnostics, astute clinicians used "gestalt" (or pattern recognition) methods to identify and describe specific neurologic disorders, neurodegenerative diseases, and genetic syndromes. The application of innovative technologies allowed valid clinical observations to be corroborated by various biomarkers, such as laboratory measurements and histopathology, and ultimately by DNA sequencing. In the current era of "omics" sciences (e.g., genomics, proteomics, or metabolomics), advances in bioinformatics and large health care databases demonstrate the potential to further expand diagnostic and therapeutic knowledge. At the organism level, phenomics is the study of phenotypic changes in response to genetic variants and environmental influences.1
Source: Neurology Clinical Practice - Category: Neurology Authors: Tags: Leukodystrophies, Case control studies, Association studies in genetics Editorial Source Type: research