Dr Brian HY Chung
Dr Merce M Garcia-Barcelo
This centre theme focuses on the genetics of disorders, especially those which affect reproduction, development and growth. It draws on existing strengths of centre members in the genetic analysis of clinical phenotypes, and in statistical genetics and bioinformatics. In addition, it has strong collaborative links with the Genome Research Centre (GRC). There are close collaborations between this and other centre themes, especially that on developmental and functional genomics. Current projects include degenerative disc disease, Hirschsprung's disease, amyotrophic lateral sclerosis and schizophrenia.
Degenerative Disc Disease
The Degenerative Disc Disease (DDD) component of the Area of Excellence Programme on Developmental Genomics and Skeletal Research aims to determine what genetic factors underlie degeneration of discs in the spine. It employs Magnetic Resonance Imaging (MRI) technology to characterise phenotype and performs a genome-wide linkage scan of 50 early-onset, multiply-affected families as well as comprehensive association analyses on 100 candidate genes in a sample of 3000 subjects from the general population of Hong Kong.
Genetic Analysis of Hirschsprung's Disease
Hirschsprung’s Disease (HSCR) is a congenital inherited disease of the nervous system of the gut in children. The nervous system of the gut controls the gut peristalsis, which is the rhythmic contraction and relaxation of the intestinal muscle moving the food bolus along the intestine. Patients with this disease develop severe intestinal obstruction causing considerable mortality and morbidity. Although the life threatening condition of affected children can be corrected by surgery, gut peristalsis functions in most of the patients could not be restored completely. Prof Paul Tam and Dr Mercedes Garcia-Barcelo and their research team have identified causative mutations and genetic variants (single nucleotide polymorphism, SNP) in genes involved in the disease. The findings of their studies contribute not only to the fundamental understanding of the disease but also to the improvement of its diagnosis and treatment.
Apart from HSRC, the team also work on other inherited diseases affecting children, such as Currarino syndrome, biliary atresia, imperforated anus, and neuroblastoma.