Clinical Chemistry and Informatics

Niemann-Pick disease Type C (NPC) is an autosomal recessive lysosomal cholesterol storage disorder caused by mutations in either of the NPC1 or NPC2 gene. To clarify its pathophysiological mechanisms and to develop the effective cure, we have performed translational and reverse translational researches using cellular and animal models of the disease. We also have carried out clinical pharmacological evaluation in patients with NPC focused on the efficacy and safety of biocompatible artificial cholesterol carrier, cyclodextrin derivatives.

We have also conducted clinical and epidemiological researches on the promotion of proper use of medicines based on the bioinformatics analysis, including such as renal function. Our researches have been focused on the medical big data analyses, including adverse event spontaneous report database, questionnaire survey, and intervention/observation research. Our current projects are being collaboratively performed with clinical institutions, pharmaceutical companies and the government.