Research

Mendelian diseases/Coding variants

Challenges to discover disease-causing variants from patient genomes are in progress in many countries. Clinical whole-exome sequencing has revealed a number of disease-specific variants in protein coding sequences, which may cause diseases. To evaluate the function of variants, we will generate knock-in mutant mice with a single-amino-acid substitution which is found in patients.

Common diseases/Regulatory variants

Diabetes and Alzheimer’s disease are common in human population and are affected by a variety of genetic and environmental factors. For the understanding of genetic contribution in common diseases, A number of genome-wide association studies (GWAS) have been conducted and identified potential risk variants. Although statistical analysis predicts the disease susceptibility of the variants, we little know about the molecular basis of common diseases. We will