Applying advances in neurogenetics to medical practice

摘要: The investigation of rare neurogenetic diseases is an example how a translational science approach may lead to the delineation complex genetic and biochemical pathways. Thisprocess comprises several intellectual stages. first step involves astute identification clinical description unique phenotype, which obvious pathways or reveal novel unexpected mechanisms. As similar patients are identified, establishment databases detailing phenotype serve provide clues as characterization, mutation based on patient samples animal cellular models. Lastly, attempts develop apply therapies what has been learned about molecular bases disease enables intervention individual level. Several stages discovery overlap be investigated simultaneously. examples, this review discusses process h...