CGC research is focused in five basic areas:
- Molecular, Statistical, and Population Genetic Approaches to Human disease gene mapping. The primary focus is upon building strategies, resources, and expertise to identify predisposing allelic variants for common heritable disorders.
- Bioinformatic and Computational Biology Tools to Enhance Disease Gene Discovery. Computational scientists at the CGC collaborate with colleagues in Computer Science, Electrical Engineering, Biochemistry and Biology to transform DNA and protein sequence data to bio-medically relevant information, i.e.: protein structure, protein function, gene regulatory interactions, protein network interactions. Computational scientists study DNA sequence, functional motifs, gene expression patterns, phylogenetic relationships, super-computer simulations of complex biological networks, probabilistic models of potential upstream regulatory sequences, and other “genomic” targets.
- Chemistry and Engineering Approaches to Enhance Genomic Technologies. CGC scientists and colleagues in Chemical Engineering are developing the next generation of DNA sequencing and mutation scanning platforms that, ultimately, will provide whole-genome allelic profiles for individual patients. Proprietary developments include advances in solid phase chemistry, modification of mass spectrometry for analysis of small molecules, massively parallel chip-based “sequence by synthesis” platform, and combinatorial fluorescent energy transfer labeling for multiplex applications. Other projects include the optimization of surface chemistry for chip-based applications and gene induction using the thermal quality of chips.
- Whole Genome Sequencing and Characterization. CGC scientists have nearly completed sequencing of the entire Legionella pneumophila genome, the bacterium responsible for Legionnaires’ disease, and together with Incyte Pharmaceuticals, have embarked upon a project to sequence all Aplysia (sea slug) genes. With colleagues in Genetics and Development, CGC scientists are helping to characterize the methylated human genome in various states of disease and development.
- Post-genomic research and technologies. CGC scientists have been developing biochip-based high throughput technologies to enable functional studies of genes and the genome at multiple molecular levels. These include the application of established cDNA microarray and oligonucleotide chip technologies for differential expression analysis at the RNA level and the establishment of protein and carbohydrate-based microarrays for characterizing protein-protein or protein-carbohydrate interactions on a large scale. Currently, a group of CGC scientists are focusing on the establishment of an antigen/antibody-based microarray system for the simultaneous detection and characterization of a wide range of microbial infections and host responses.