Genetics and Genomic Medicine

The rapid development of knowledge in genetics and genomic medicine over the past decades revolutionarised our understanding of human health and diseases. Studies on novel disease genes, genotype-phenotype correlations, birth defects, molecular diagnostic methods, medical bioinformatics, clinical application of next generation sequencing of viral genomes to elucidate mechanism of viral pathogenesis in cancers, ethics and counseling are carried out with special focus on paediatric diease entities.

Next generation sequencing of Epstein-Barr virus genomes in tumour tissues, saliva and blood

The objective is to discover pathogenic variants of EBV associated with particular diseases.

Clinical and molecular studies

Longitudinal follow-up of different cohorts of EBV-associated lymphoproliferative diseases in children.

Paediatric non-Hodgkin lymphoma therapeutic trials.

Using cutting-edge technologies including CNV arrays, whole exome/genome sequencing and detailed phenotypic evaluation, we identify novel variants/genes involved in the pathogenesis of human diseases.

Bioinformatics

We are interested in human genetics for both complex diseases and Mendelian disorders. We use genome-wide association studies (GWAS) to study diseases such as SLE and whole exome sequencing (WES) to reach molecular diagnoses for Mendelian disorders such as PID. We are also interested in analysis of big data in biology. For example, we try to understand susceptibility in the context of gene expression, epigenetic changes, genome biology, and immunological pathways. We also have a keen interest in improving next generation sequencing (NGS) for molecular diagnosis of Mendelian diseases and for population genetic screening. For details, see paed.hku.hk/genome