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kenjiro kosaki

Prof. Kenjiro Kosaki

Sep 14, 12:30|Teva Hall | Session 2

Importance of Phenotype Data Sharing in Delineation of Undiagnosed Diseases

Associate Professor,Division of Medical Genetics Department of Pediatrics, Keio University School of Medicine

As catalogued in standard genetics textbooks like "Metabolic and Molecular Basis of Inherited Diseases" and "Inborn Errors of Development", several hundreds of genes have been shown to cause human congenital disorders. The identification of these causative genes has offered us a wonderful opportunity to delineate the molecular basis of these disorders. Molecular diagnosis offers valuable information to the patients and their families in terms of prognosis, preventing complications, and providing accurate genetic counseling as well. Thanks to the completion of the human genome project, information on the human genome sequence is now readily accessible to everybody and, theoretically, any gene can be tested by the direct sequencing of PCR products amplified from the patient's genomic DNA. However, identifying pathogenic mutations is often difficult especially when the causative gene has a large number of exons. In such cases, direct sequencing is expensive, technically demanding, and time consuming. Recently, a high-capacity low-cost mutation scanning method based on denaturing high-performance liquid chromatography (DHPLC) has been introduced. Over the past nine years, we have developed an automated and cost-effective strategy using DHPLC. In the global COE program, I would like to share our strategies with the members of the program, young investigators, and graduate students.