Author: Gropman, Andrea

Source: Future Neurology, Volume 1, Number 5, September 2006 , pp. 677-685(9)

Publisher: Future Medicine

Abstract:

The investigation of rare neurogenetic diseases is an example of how a translational science approach may lead to the delineation of complex genetic and biochemical pathways. Thisprocess comprises several intellectual stages. The first step involves the astute identification and clinical description of the unique phenotype, which may lead to obvious pathways or may reveal novel or unexpected mechanisms. As similar patients are identified, the establishment of databases detailing the clinical phenotype may serve to provide clues as to the genetic and biochemical characterization, and identification of the genetic mutation based on patient samples and animal or cellular models. Lastly, attempts to develop and apply therapies based on what has been learned about the biochemical and molecular bases of the disease enables intervention on the individual patient level. Several stages of discovery may overlap or be investigated simultaneously. As examples, this review discusses how this process of investigation has enabled progress in the delineation of several genetic and neurogenetic disorders, including Progeria syndrome, neurodegenerative diseases, muscular dystrophy, Rett syndrome and neurotransmitter disorders. This review attempts to summarize the transition from the bedside-to-bench-to-bedside as a model of bringing such discoveries into the clinical arena, and in doing so addresses the issues that may enhance, or complicate, such a path of discovery, as well as the impact such advances in genetics and genomics may have on the practice of clinical medicine and the role of the physician.

Keywords: animal models; genetics; genomics; human genome; neurogenetics; neurotransmitters; NIH Roadmap; pharmacogenomics; rare disorders; translational research

Document Type: Research article

DOI: http://dx.doi.org/10.2217/14796708.1.5.677

Affiliations: 1: Georgetown University, Department of Pediatrics, Washington, DC 20007, USA. Current address: Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC 20010, USA., Email: agropman@cnmc.org

Publication date: 2006-09-01

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• Future Neurology provides a forum to address the most important challenges and advances in our understanding of neurological disease, and highlights emerging trends and prospects for effective treatments in common but very serious disorders such as stroke, epilepsy, multiple sclerosis and Parkinson's disease.
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