Functional Genomic

Division of Genetic Information is conducting the following researches.  

1.  Identification of etiologic genes for monogenic diseases including Familial Juvenile Gouty Nephropathy and other two inherited metabolic disorders.  This is because the identification of the etiologic gene for monogenic diseases is important.  In addition, the knowledge about the monogenic diseases does help to find the disease susceptibility genes of common diseases.  

2.  Case-control study on diabetes and rheumatoid arthritis is being actively pursued.  We have picked up the candidate loci based on multiple independent  linkage studies in multiple different races.  We are assuming that the common disease susceptibility genes are shared among different ethnic groups. The concept of "Common Disease-Common Variant-Common Origin Hypothesis" is being actively tested.   

3.  To conduct the case-control study with SNPs at the most efficient condition, we have selected the specialized SNPs.  These SNPs are selected based on the even-spacing of at least one SNP in 10 kb of the gene region.  The gene region include 10 kb each in the 5'-upstream and 3'-downstream.  In addition, only those common SNPs meaning the minor allele frequency of larger than 15% have been selected.  Based on these idea Gene-Centric, Even-Spacing, Common SNPs probes are being verified in Asican Population.  (Please refer to 15 ASNPs (Asian SNPs database.)

4.  QTL analysis on the F2 generation of spontaneously diabetic mice are actively studies.  We are using multiple diabetic mouse models with multiple strains.  We have already picked up multiple quntitative trait loci to modify the disease parameters of diabetes including blood glucose concentrations, body weight, fat weight etc.  

5.  We have been producing multiple transgenic mice to stdy the generation and differentiation of pancreatic beta cells which secrets insulin.  Transgenic mice are the strong tools to study the functions of genes in vivo.  We have been applying this method to study diabetes, diabetic complication, the regulation of purine biosynthesis, etc.  

6.  We are also trying to develop the quicker, more accurate, high throughput methods for SNPs discovery and typing, including capilary SSCP etc.  

7.  We are also trying constantly to develop the new argorhythm in the field of genetic statistics.