Biomedicine

Development and Reproduction

Life starts with a fertilised egg, which spawns the billions of cells needed to create a person. Research into embryonic development and reproductive health is at the cutting edge of modern medical science, contributing to the discovery of genes linked to diseases and the mechanisms that underlie congenital and degenerative diseases and disorders of reproduction.  Such issues can cause problems that extend throughout a person’s life and are associated with economic and other significant burdens on society.

Foetus in the womb

At HKU scholars from the Li Ka Shing Faculty of Medicine and the Faculties of Science, Engineering, Dentistry, and Law are collaborating to make new discoveries and translate these into applications. Supported by the Research Grants Council’s Collaborative Research Fund and the University Grants Committee’s Areas of Excellence (AoE) scheme in Developmental Genomics and Skeletal Research, they are carrying out multidisciplinary, pioneering studies on ageing and stem cells, hearing and balance defects caused by abnormal ear development, and skeletal development and the genetics of degenerative skeletal disease.

The current priority is to build up strength in stem cell research and regenerative medicine. HKU has a deep research interest in this field, which holds promise of leading to new cures and better individualised treatment. Researchers are also investigating the risk factors and underlying causes of genetic disorders, which could provide clues on how variations in our genetic make-up can influence susceptibility to disease and responses to treatment. They use advanced technologies, such as imaging, bioinformatics, genomics and proteomics, and are also developing enabling technologies for therapy and regenerative medicine.

Stem cells and regenerative medicine

"Stem cell research is one of the fastest developing frontiers of biomedical research with vast implications in regenerative medicine," said Professor K.S.E. Cheah of the Department of Biochemistry. "Stem cells may hold the key to effective remedies for many diseases, disorders and conditions that currently lack satisfactory treatment." Professor Cheah is also convenor of the Development and Reproduction research theme.

"Induced pluripotent stem cells" (iPS) are of particular interest in tissue regeneration. These can be taken from adults and reprogrammed to an embryonic state, from which they can develop into new tissues.

"The hope is iPS cells can be used to treat diseases and conditions, but there are still outstanding questions — in particular, whether they perform as well as truly embryonic cells and whether they can be entirely reprogrammed," said Dr Z. Zhou of the Department of Biochemistry.

A project at HKU is investigating whether the age of the source cells has any effect on their behaviour when they are converted to iPS cells. Cells from subjects who have a premature ageing disease will be studied because they have a large number of cells with gene damage.

Egg and sperm

The environment in which stem cells develop can also be a factor in their development. A separate project is investigating this issue. Stem cells are unspecialised — they are neither bone, nor blood, nor tissue nor any other body part. But they are capable of differentiating into these specialised cells and sustaining long-term self-renewal. "We think the external environment around stem cells may affect how they differentiate and self-renew," said Dr B.P. Chan of the Department of Mechanical Engineering.

This will be tested at HKU using planarians, a type of worm that has a much larger quantity of stem cells than mammals. The aim is to identify similar genes in the mammalian system for stem cell maintenance.

Research is also well underway into luminescent and photo-stable bio-labelling reagents, through which scientists can probe and track live cells. "The advances in imaging techniques are expected to lead to scientific and clinical breakthroughs in such areas as drug discovery, chemical biology, human health and bio-nanotechnology," said Professor W.T. Wong of the Department of Chemistry.

Genetics of disorders

Understanding the genetic nature of disorders can help in identifying those at risk and developing treatments. New projects are targeted at finding clues to the genetic origins of two disorders: scoliosis and schizophrenia.

Scoliosis is a deviation of the spine that can result in back pain, unsightliness and early death from cardiopulmonary compromise if left untreated. It affects about 0.3 percent of adolescents. Recent studies have detected susceptibility genes for Adolescent Idiopathic Scoliosis, which cannot be explained by other causes. HKU researchers are using new technologies to find markers for prognosis so people will know if they are genetically at risk.

"We want to systematically study genes associated with the condition in southern Chinese and identify risk factors and their possible interactions in scoliosis development," said Professor K.M.C. Cheung of the Department of Orthopaedics and Traumatology.

Spinal images

The study will draw on clinical samples, as well as data collected under the AoE in Developmental Genomics and Skeletal Research. In the latter, investigators are seeking genetic risk factors for degenerative intervertebral disc disease, which often leads to back pain.

Schizophrenia, a severe mental disorder affecting one percent of the population, has also been suggested to have a genetic base, but few of the genes responsible have been identified.

"Research to date has focused on common genetic variants, but rare variants may also play a role in the development of the disease," said Professor P.C. Sham of the Department of Psychiatry. HKU researchers will search for these rare variants using whole-genome sequencing, a new technology that enables scientists to pinpoint rare genetic variants. This would be the first study of its kind to report rare variant influences in schizophrenia.