Rapid advances in technology are enabling scientists to look at the gene- and protein-level changes associated with disease, which ultimately will accelerate detection, prevention and treatment.
Genomics research has been entrenched at HKU for well over a decade and our scientists have participated in major initiatives to expand knowledge in this field, including the International HapMap Project, genomewide association studies (GWAS) and whole-exome sequencing studies (WESS).
The scientists have acquired experience and expertise in essential genomic research tools, such as DNA sequence assembly, alignment and variant calling and statistical analysis of GWAS and WESS data, and they have applied these tools with fruitful results.
Among their discoveries are new chromosomal regions (susceptibility loci) linked to a number of complex diseases such as colorectal cancer, liver cancer, Hirschsprung's disease, biliary atresia, osteoporosis, intervertebral disc degeneration and schizophrenia. They have also identified novel mutations for single-gene diseases such as congenital Crohn's disease and familial dilated cardiomyopathy (enlargement of the heart).
In the current SRT round, the team from the Faculties of Medicine, Science and Engineering hope to take the work further. New and expanded fields of work include cancer genomics, in particular locally prevalent cancers such as nasopharyngeal and hepatocellular carcinomas, as well as breast, lung, esophageal and colorectal cancers; and pharmacogenetics and personalised medicine using genomic information to predict differential responses and adverse reactions to drugs, and individual differences in disease risks and outcomes.
Work will also continue in another area of considerable strength, viral and microbial genomics and evolution, which was recently extended to include bacteria with the development of a Next-Generation Sequencing platform for complete bacterial genome sequencing. The team is also evaluating the impact of drugs and other extraneous influences on gut and environmental microbiomes.
Professor Pak Sham, the Genomics SRT Convenor, said their work is underpinned by a strong infrastructure – including the University's Centre for Genomic Sciences, which provides cost-effective, high-quality core services in genomic technologies and bioinformatics – and a focus on inclusive, interdisciplinary and collaborative research.
Related major work at the University includes projects on 'Developmental Genomics and Skeletal Research' (Areas of Excellence project), 'Functional Analyses of How Genomic Variation Affects Personal Risk for Degenerative Skeletal Disorders' and 'Genetics and Functional Genomics of Neural Crest Stem Cells and Associated Disease: Hrschsprung Disease' (Theme-based Research Scheme projects).
There is huge potential for clinical translation, including molecular diagnosis of patients and families with inherited diseases, genetic risk stratification in population screening, and the identification of novel drug targets.
Professor P.C. Sham, Convenor