Human individual genomic variations including single nucleotide polymorphisms (SNPs) contribute to inheritable characteristic differences of individuals. Statistical correlations between individual SNPs and certain phenotypes would identify the genes and SNPs associated with the phenotypes. For these purposes thousands of human blood samples are allelotyped and individually genotyped using high-throughput MassARRAY system consisting of a multi-channel liquid handler, a nanoliter liquid dispenser, a MALDI-TOF mass spectrometer, real-time genotyping software and data management server computers.
(1) SNP-based Disease Association: Differences in susceptibility to certain diseases among individuals are partly due to individual differences in
genotypes. The patients more susceptible to disease development would share certain SNP haplotypes than those less susceptible. Blood samples are
collected from non-patients and patients in various stages of disease development. The identified genes and alleles could be used for drug development
and risk assessment.
(2) Pharmacogenomics and Toxicogenomics: Drugs are less or more effective to certain individuals than the others and have adverse toxic effects in
some individuals. Individuals showing different responses to drugs would have different SNP haplotypes. Blood samples are collected from normal popular
responders, non-responders, hyper-responders, and adverse responders. The identified genes and alleles would be used for personalized custom
(3) Mass-based Multiplex Genomics Technology: Current technologies for discovery of mutations and polymorphisms are largely automated but have
limitations in throughput and accuracy. Our strategy for developing novel platform technology of enhancing accuracy and throughput is to use mass
spectrometry for mutation/polymorphism discovery and DNA sequencing.