〒162-8666 8-1, Kawada-cho, Shinjuku-ku, Tokyo
The Human Genome Project, which ended in 2003, took more than
10 years to decipher the genome of just one person. However, the human
genome sequence information once revealed by the Human Genome Project had
a great influence on the subsequent changes in genome analysis technology.
It brought about the emergence of microarrays that apply human genome sequence
information and next-generation sequencers that analyze the obtained sequences
by mapping them to the genome sequence. As a result, the causative genes
of many diseases that could not be known until then have been clarified,
and it has become clear that there are many diseases that develop due to
the difference in the number of copies rather than the primary sequence.
Furthermore, it became clear that there are many genomic variants in human
genome, most of which should be treated as individual differences rather
than being associated with disease.
On the other hand, individual genomic information has properties that are completely different from information obtained by other clinical tests and the like. It has three characteristics: (1) immutability, (2) predictability, and (3) commonality. An individual's genomic information does not change throughout life and, depending on its interpretation, can be applied to predict possible future diseases, and the results may be inherited and shared with relatives. Therefore, it can be applied to presymptomatic diagnosis of cancer and prenatal diagnosis of congenital disorders, and ethical consideration is required. Therefore, in order to clinically apply genomic information, implementation based on informed consent, concealment of genomic information, and measures by genetic counseling are required.
Genomic medicine is becoming increasingly necessary, especially in the areas of intractable diseases and cancer. In order to apply genomic medicine clinically, it is necessary to understand the latest analysis technology and be able to interpret various genomic information while making full use of databases and various algorithms. It is also necessary to fully understand the characteristics of genomic information and handle it appropriately in clinical practice through genetic counseling. In the field of genetic medicine, we aim to develop human resources who can take charge of genomic medicine that requires such high expertise. For this purpose, we also have a course to train clinical geneticists and certified genetic counselors who have a credit transfer system in collaboration with Ochanomizu University Graduate School.
1. Elucidation of the onset mechanism of pediatric neurodevelopmental disorders
2. Genome diagnosis of undiagnosed intractable diseases
3. Elucidation of the mechanism of genomic structural abnormalities by ultra-long sequencing
4. Survey on the actual conditions of rare intractable diseases
5. Application of genome analysis technology to reproductive medicine
6. Cancer genome research
7. Identification of an unknown gene that regulates erythrocyte lifespan
Toshiyuki Yamamoto, Associate Professor (Director)
Hitoshi Kanno, Professor
Naoko Iwasaki, Professor
Mari Matsuo, Associate Professor
Tamaki Kato, Assistant Professor
8-1, Kawada-cho, Shinjuku-ku, Tokyo