In recent years the challenge of neurogenetics has extended to the analysis of important complex human diseases including the common neurodegenerative diseases that have a major impact in our community. In contrast to developmentally based neurological and neuromuscular disorders where advances have been made through pedigree-based analyses and linkage studies, analyses of complex human diseases were, in general, initially targeted to the study of large cohorts of thousands of patients and controls in association based studies. Such studies have identified multiple loci but most have low odds ratios. Complementary to this, it has been also identified that for some of these diseases small subsets of patients comprising isolated pedigrees represent phenocopy to the outbred disease. This recognition has enabled linkage studies to be performed to identify mutations/genetic variations that are of greater importance in these individuals and are of functional significance, although the nature of their significance at the molecular level requires intensive study. Another major challenge is to determine whether/how these genetic variants provide insight into pathogenetic mechanisms that are operative in the outbred populations.
Data basing and the acquisition, use and storage of biological samples in the health sector has occurred parallel to clinical research projects, although the two have previously interacted in specific instances such as use of the Guthrie card. This issue is of particular importance for neurogenetics as we move from the era of identifying genetic causes or disease susceptibility, to the era of identifying genetic determinants of disease severity. This shift will require access to additional information, ideally including clinical and paraclinical data accumulated in the health sector.
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