Department of Genetics Diseases & Genome Science, Tokyo Jikei University School of Medicine was established by Prof. Yoshikatsu Eto since April 1, 2008. The aims of this institute are to establish the following research projects:
- Understanding of pathogenesis of the genetic diseases, particularly lysosomal storage diseases(LSD).
- To establish the novel treatment procedures such as enzyme replacement therapy(ERT), chaperon therapy, New anti-oligonucleotide(AON) therapy (PTC), Cell therapy/Gene Therapy.
- To establish new technology of induced pluripotent stem cells (iPS) from various LSD :Understanding of pathophysiology of LSD and New therapy
- To evaluate the efficacy of ERT; long term efficacy of LSD
- To develop New treatment for CNS involvement in LSD and other Genetic Diseases
- To establish new screening procedures of LSD by dried blood spots and others.
- To understand the current status of LSD patients such as QOL, ADL etc.
- Others
