The ability to walk and run is usually taken for granted but skeletal diseases such as back pain, osteoarthritis and osteoporosis have significant economic and human impact. As people live longer, these disorders are forecast to reach unprecedented levels globally. Research being carried out by The University of Hong Kong is currently at the forefront of studies into the key area of degenerative skeletal disorders.

Professor Kathryn Cheah is Chair Professor of Biochemistry at The University of Hong Kong and is an internationally recognised expert on molecular and developmental genetics who has contributed important insights into congenital and degenerative skeletal disorders and hereditary deafness. Her research focuses on understanding how genes are regulated and how genetic changes can cause disease, with an emphasis on skeletal and hearing disorders. Some of these disorders can arise because of disturbances in foetal development. The outcomes of such disturbances can be mild, but can also have serious outcomes such as death at birth as a result of crippling malformation, to being progressively disabling because of degenerative changes. She and her team discovered new mechanisms that explain how genetic changes can cause congenital skeletal disorders such as dwarfism. They also discovered a master “hearing gene” that is essential for inner ear function. This discovery is significant for understanding hearing loss and the development of therapies.

She is currently leading a multidisciplinary group research programme involving clinicians and scientists aiming to identify and understand genetic risk factors underlying degenerative skeletal disorders. The driving motivation of her research is the realisation that genomic and regenerative medicine will play critical roles in helping to preserve healthy growth and quality of life. The mission of her group is to make significant contributions through multidisciplinary synergistic partnerships and cutting edge science to enable ambitious research questions on these disorders to be tackled. By applying the new knowledge to the development of strategies for the reconstitution or repair of tissues, her group aspires to reach the long-term vision of “Bench to Bedside” research, translating discovery to the clinic.

Professor Cheah received a BSc degree in Biology from the University of London, and a PhD from the University of Cambridge in Molecular Biology. After postdoctoral research at the University of Cambridge, The University of Manchester and the Imperial Cancer Research Fund, London, she joined HKU in 1983. She was Head of the Department of Biochemistry from 1997-2009 and Director of the Li Ka Shing Faculty of Medicine Centre for Reproduction, Development and Growth from 2004-2009. She is Convenor of the University’s Strategic Research Theme on Development & Reproduction.

In 2000, Professor Cheah was awarded a Croucher Foundation Senior Fellowship and the HKU Outstanding Researcher award. She was appointed Honorary Professor at Peking Union Medical College (1997), and Senior External Fellow of the University of Freiberg Institute of Advanced Studies 2011-2012. She was elected the President of the International Society for Matrix Biology 2006-2008 and to the Board of Directors of the International Society of Differentiation (2012-2018). In 2012, she was appointed to the Gordon Research Conferences Advisory Board for Hong Kong and in 2013, she was elected Fellow of The World Academy of Sciences in recognition of her research.

Professor Cheah has been invited to speak at many international conferences world-wide, and is serving on the editorial boards of seven international journals, including PLoS Genetics, BioEssays and Annual Reviews of Genomics & Human Genetics.