ゲノム医学に役立つ個体モデル

抄録

With advances in human genome projects we entered the era of functional genomics, medical genomics, and pharmacogenomics. However, it is a difficult task to carry out studies in all these areas in a short period of time. To accomplish this goal, we definitely need resources for research. These resources include cDNAs, peptides, antibodies, and genetically engineered mice. For medical genomics, we think it particularly important to have a large number of animal models for human diseases. Because we have to analyze pathogenesis and pathologic processes of disease development. To do these, we need a whole animal body. As one example, I descried a transgenic mouse model for human dominantly inherited disease, Familial amyloidotic polyneuropathy (FAP). Using this model, we demonstrated that; (1) amyloid deposition itself starts after 6 months of age, although the serum level of mutant protein reached at adult level at 4 weeks of age, (2) intrinsic and extrinsic environmental factors affect the development of amyloid deposition, and (3) the effect of newly developed drug can be evaluated using an animal model for FAP. Thus, transgenic mouse models for human diseases may play important roles in medical genomics.