Developing novel methods for high-throughput scoring of gene variation in human and animal disease states

The human genome contains a great deal of sequence variation between persons. This variation involves single nucleotide polymorphism (SNP) as well as sequence deletions and insertions of various sizes. The variations can occur anywhere in a gene, and may affect transcription/expression levels, and/or may alter the resulting protein sequence (which may or may not change protein function), and/or may be neutral (of no consequence).
Worldwide, the study of gene sequence polymorphism is growing dramatically because it is the most functionally relevant dimension of the maturing Human Genome Project. The reason for our group´s interest is that all human characteristics (normal variation and the genetic contributions to disease states) are completely dependent upon gene sequence variation. Thus, we need to develop ways to assay the patterns of DNA polymorphism in large numbers of different individuals (disease and normal) in order to understand the genetic basis of human diversity and vulnerability to disease.
The research activities of the current project will entail
i) development work on a new SNP scoring method (DASH) and associated assay device we have constructed with industrial partners,
ii) testing the DASH assay on several newly discovered gene variations, and
iii) evaluation of parameters for transferring DASH to a micro-chip format for enhanced speed, throughput and simplicity.
Bio-informatics and computing will also play a large part in these research endeavours.