• Understanding genes, their regulation and function with emphasis on development.
• The genetic and molecular basis of inherited and degenerative skeletal disorders.

The Mission of her group is to make significant contributions through multidisciplinary synergistic partnerships and cutting edge science. Her group aspires to reach the long term Vision of “Bench to Bedside” research, translating discovery to the clinic. Some key contributions of her group are:

• Sox2 as a master “hearing gene”;
• Molecular insights into the function of Sox9, the master gene for development of cartilage;
• Discovery of a mechanism that explains how mutations causing ER stress in chondrocytes, can affect their differentiation and cell death and thereby cause skeletal disorders;
• Showed that chondrocytes become osteoblasts during bone formation and repair, thereby resolving a century-long debate about this possibility.

Professor Kathryn Cheah is a developmental geneticist. She received her PhD in molecular biology from the University of Cambridge, UK, was a postdoctoral fellow in the University of Manchester and Imperial Cancer Research Fund, UK. In HKU she has served as Head, Department of Biochemistry and Director of the Centre for Reproduction, Development and Growth. She was awarded a Croucher Foundation Senior Fellowship (2000) and is an elected Fellow of the global academy for the advancement of science in developing countries, The World Academy of Sciences (TWAS). In 2021 she was elected as Member of the Hong Kong Academy of Sciences. She was awarded the British Society for Matrix Biology Medal Lecture 2022 for her contributions to matrix biology. She was elected Associate Member of EMBO (European Molecular Biology Organisation (https://www.embo.org/about-embo/membership/) in 2023.

The driving motivation of her research is the realisation that, with an ageing population worldwide, genomic and regenerative medicine will play critical roles in helping to preserve healthy growth and quality of life. She uses human and mouse embryonic stem cells and genetically modified mice as models to study development and disease and develop therapeutic approaches for disorders of cartilage (e.g. osteoarthritis) and low bone mass (e.g. osteoporosis) and intervertebral disc degeneration.

She and her team pioneered the introduction of transgenic and knockout mouse technology to Greater China and Hong Kong.

She is passionate about contributing to the public and professional understanding of science and promoting the international profile of Hong Kong science through organizing international symposia and Croucher Foundation Advanced Study Institutes. She has served as Biology & Medicine Panel member on the Research Grants Council and as Biology Panel Member for the University Grants Committee Research Assessment exercises. She is currently a panel member of the Health and Medical Research Fund.

Internationally she is Senior Editor for eLife and also serves on the Editorial Board of Journal of Orthopedic Research, as Editorial Advisor: Emerging Topics in Life Sciences, on the Advisory Board, Natural Sciences.

She was elected President of the International Society for Matrix Biology 2006-2008; the founding President of the Hong Kong Society for Developmental Biology (HKSDB) (2004-2013); Hong Kong representative for Asia-Pacific Developmental Biology Network and the International Society of Developmental Biology; appointed Senior External Fellow of the University of Freiberg Institute of Advanced Studies 2011-2012; elected member, Board of Directors of the International Society of Differentiation (2012-2018). Currently she serves on the Hong Kong Advisory Board of the Gordon Research Conferences (GRC) and the GRC Board of Trustees Conference Evaluation Committee. She was Chair of the Bid Committee for the ISSCR (International Society for Stem Cell Research) Annual Meeting 2025 in Hong Kong. Currently she serves as co-Chair with Eugenia Piddini of the ISSCR 2025 program committee.

• Postdoc Fellow in Stem Cells and Regenerative Medicine

1. T.L. Chu, P. Chen, A.X. Yu, M. Kong, Z. Tan, K.Y. Tsang, Z. Zhou, K.S.E. Cheah^¥ (2023) MMP14 cleaves PTH1R in the chondrocyte-derived osteoblast lineage, curbing signalling intensity for proper bone anabolism. eLife 12:e82142. doi: 10.7554/eLife.82142.

2. T.Y.K. Au, R.K.H. Yip, S.L. Wynn, T.Y. Tan, A. Fu, Y.H. Geng, I.Y.Y. Szeto, B. Niu, K.Y. Yip, M.C.H. Cheung, R. Lovell-Badge, K.S.E. Cheah^¥ (2023) Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia. Proc. Natl. Acad. Sci. (USA) 120(1):e2208623119. doi: 10.1073/pnas.2208623119. Epub 2022 Dec 30.
3. I.Y.Y. Szeto, D.K. Chu, P. Chen, K.C. Chu, T.Y.K. Au, K.K.H. Leung, Y.H. Huang, S.L. Wynn, A.C.Y. Mak, Y.S. Chan, W.Y. Chan, R. Jauch, B. Fritzsch, M.H. Sham, R. Lovell-Badge, K.S.E. Cheah^¥ (2022) SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms. Proc. Nat Acad. Sci. (USA) 119:e2122121119
   [Press release]
4. T.Y.K. Au, T.K. Lam, Y. Peng, S.L. Wynn, K.M.C. Cheung, K.S.E. Cheah^¥, V.Y.L. Leung^¥ (2020) Transformation of resident notochord-descendent nucleus pulposus cells in mouse injury-induced fibrotic intervertebral discs. Aging Cell. Oct 21:e13254. doi: 10.1111/acel.13254.
5. S.S. Guo, T.Y. Au, S. Wynn, A. Aszodi, D. Chan, R. Fässler, K.S.E. Cheah^¥ (2020) β1 integrin regulates convergent extension in mouse notogenesis, ensures notochord integrity and the morphogenesis of vertebrae and intervertebral discs. Development dev192724. doi: 10.1242/dev.192724.
   [Featured as a Research Highlight in Development: β1 integrin: integral in notochord development. Development (2020) 147:e2202]
6. Z. Tan, M. Kong, S. Wen, K.Y. Tsang, B. Niu, C. Hartmann, D. Chan, C.C. Hui, K.S.E. Cheah^¥ (2020) IRX3 and IRX5 Inhibit Adipogenic Differentiation of Hypertrophic Chondrocytes and Promote Osteogenesis. J Bone Miner Res. 35(12):2444-2457. doi: 10.1002/jbmr.4132.
   International Bone Marrow Adiposity Society ‘Paper of the Month’ (http://bma-society.org/paper-of-the-month/).
7. Y. Zhang, Z. Zhang, P. Chen, C.Y. Ma, C. Li, T.K.Y. Au, V. Tam, Y. Peng, R. Wu, K.M.C. Cheung, P.C. Sham, H.F. Tse, D. Chan, V.Y. Leung, K.S.E. Cheah^¥ and Q. Lian^¥ (2020) Directed Differentiation of Notochord-like and Nucleus Pulposus-like Cells Using Human Pluripotent Stem Cells. Cell Reports 30(8):2791-2806.e5. doi: 10.1016/j.celrep.2020.01.100. PMID: 32101752. (¥ Co-corresponding)
8. K.Y. Tsang and K.S.E. Cheah^¥ (2019) The extended chondrocyte lineage: implications for skeletal homeostasis and disorders. Current Opinion in Cell Biology 61: 132-140. doi: 10.1016/j.ceb.2019.07.011.
9. M. Wang*, Z. Tan*, B. Niu, K.Y. Tsang, A. Tai, W.C.W. Chan, R.L.K. Lo, K.K.H. Leung, N.W.F. Dung, N. Itoh, M.Q. Zhang, D. Chan and K.S.E. Cheah^¥ (2018) Inhibiting the Integrated Stress Response Prevents Aberrant Chondrocyte Differentiation and Alleviates Skeletal Defects in Chondrodysplasia. eLife, e37673. doi: 10.7554/eLife.37673.
10. Z. Tan*, B. Niu*, K.Y. Tsang, I.G. Melhado, S. Ohba, X. He, Y. Huang, C. Wang, A.P. McMahon, R. Jauch, D. Chan, M.Q. Zhang and K.S.E. Cheah^¥ (2018) Synergistic co-regulation and competition by a SOX9-GLI-FOXA phasic transcriptional network coordinate chondrocyte differentiation transitions. PLoS Genetics 14(4):e1007346. doi: 10.1371/journal.pgen.1007346. [Link to Growth Plate Differential Gene Expression Library (GP-DGEL)]
11. A. Tai, M. Cheung, Y-H Huang, R. Jauch, M.E. Bronner and K.S.E. Cheah^¥ (2016) SOXE neofunctionalization and elaboration of the neural crest during chordate evolution. Scientific Reports 13:6:34964. doi: 10.1038/srep34964. 
12. K.Y. Tsang, D. Chan and K.S.E. Cheah^¥ (2015) Fate of growth plate hypertrophic chondrocytes: Death or lineage extension? Development, Growth & Differentiation 57: 179-192.
13. L. Yang, K.Y. Tsang, H.C. Tang, D. Chan and K.S.E. Cheah^¥ (2014) Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation. Proc Natl Acad Sci USA. 111(33): 12097-12102. 
14. C.W. Cheng, B. Niu, M. Warren, L.H. Pevny, R. Lovell-Badge, T. Hwa^¥ and K.S.E. Cheah^¥ (2014) Predicting the spatiotemporal dynamics of hair follicle patterns in the developing mouse. Proc Natl Acad Sci USA. 111(7): 2596-2601. 
15. V.Y.L. Leung, B. Gao, K.K.H. Leung, I.G. Melhado, S.L. Wynn, T.Y.K. Au, N.W.F. Dung, J.Y.B. Lau, A.C.Y. Mak, D. Chan and K.S.E. Cheah^¥ (2011) Sox9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression. PLoS Genetics 7(11): e1002356.
16. K.Y. Tsang*, D. Chan*, D. Cheslett, W.C.W. Chan, C.L. So, I.G. Melhado, T.W.Y. Chan, K.M. Kwan, E.B. Hunziker, Y. Yamada, J.F. Bateman, K.M.C. Cheung and K.S.E. Cheah^¥ (2007) Surviving ER Stress Is Coupled to Altered Chondrocyte Differentiation and Function. PLoS Biology 5(3): e44.
17. A.E. Kiernan*, A.L. Pelling*, K.K.H. Leung, A.S.P. Tang, D.M. Bell, C. Tease, R. Lovell-Badge, K.P. Steel and K.S.E. Cheah^¥ (2005) Sox2 is required for sensory organ development in the mammalian inner ear. Nature 434: 1031-1035.
    
    (* equal contribution; ¥ corresponding author)

1. K.S.E Cheah & K.M.C. Cheung (2002). Uses of a transgenic mouse containing a type X collagen mutant. US Patent no. 6,369,295
2. K.S.E Cheah & K.M.C. Cheung (2005). Uses of a transgenic animals containing a type X collagen mutant. European Patent no. 1,159,423, German part no. 69924158.8.

• Research featured in HKU Bulletin (May 2023): HKU Scientists Discover Deafness Master Genes
• Press release (2022-12-05): HKUMed scientists lead discovery of two master genes critical for hearing, providing a guide for diagnosis of deafness and balance problems
• Cover story in HKU Bulletin (May 2019)
• Interview in TVB news health programme《醫療室》(2018-12-03): 港大成功研究抑制細胞變異 冀研發侏儒症藥物
• Press release (2018-10-8): HKU Scientists Discover a Potential Therapeutic Strategy to Prevent Dwarfism Caused by Excessive Cellular Stress
• 新聞稿 (2018-10-8): 港大發現因細胞應激過度活躍而引起的侏儒症的醫治方向
• Apple Daily (2018-10-22): 助兒童骨骼正常生長　無副作用 港大研新法　抑制侏儒症 [pdf]
• Apple Daily (2018-10-22): 藥物進一步研究或可兼治糖尿關節 [pdf]
• HK01 (2018-10-22): 港大治療侏儒症藥物研究有突破-小鼠注射一個月-骨骼增長一成
• Oriental Daily (2018-10-22): Dr.東：抑制劑奏效　港大研治侏儒症現曙光
• Hong Kong Economic Journal (2018-10-22): MCDS侏儒症有藥醫
• Press release (2014-8-6): HKU researchers resolve century-long debate about how bone cells develop
• 新聞稿 (2014-8-6): 香港大學學者破解骨細胞發育的世紀之謎
• International Innovation - ResearchMedia
• South China Morning Post (2013-10-10): Mutated gene found to cause back problem in almost half of Hongkongers: HKU study

• UGC Areas of Excellence Scheme
  • 2005–2013: Developmental Genomics & Skeletal Research (Project coordinator)
    • Project summary
    • Highlights of achievements (from Research Grants Council, Hong Kong):
      
      • Highlights of achievements (pdf)
• RGC Theme-based Research Scheme
  • 2015–2020: Genetics and Functional Genomics of Neural Crest Stem Cells and Associated Disease: Hirschsprung Disease (Co-PI, Project coordinator: Prof. Paul Tam)
  • 2013–2018: Functional analyses of how genomic variation affects personal risk for degenerative skeletal disorders (Project coordinator)
    • Project Presentation in Theme-based Research Scheme Public Symposium, 9 December 2017 (from Research Grants Council, Hong Kong):
      
• RGC Collaborative Research Fund (CRF)
  • 2020–2023: Functional and systems analyses of regulatory networks controlling cell fate and lineage development of intervertebral disc cells (Project coordinator and co-PI)
  • 2017–2020: Multi-scale single-cell optical imaging: architecture and biomedical applications. (Co-PI, Projector coordinator: Dr. Kevin Tsia)
• RGC General Research Fund (GRF) Projects
  • 2019–2022: Analyses of progenitors and differentiation trajectories in the nucleus pulposus and their relevance in intervertebral disc degeneration
  • 2017–2020: Molecular control of hypertrophic chondrocyte cell fate and lineage extension
  • 2014–2017: Mechanisms controlling determination of sensory versus non-sensory fate in inner ear development
  • 2013–2016: Mechanistic insights into the genesis and physiological role of hypertrophic chondrocyte-derived osteoblasts
  • 2012–2015: Genetic analyses of the roles of Sox2 and Sox18 in hair follicle development
  • 2010–2014: Genetic analyses of sensory fate determination in inner ear development
• NSFC/RGC Joint Research Project
  • 2013–2017: Identifying critical transitions and gene regulatory networks controlling phases of chondrocyte differentiation in the growth plate
• Health and Medical Research Fund (HMRF)
  • 2020–2023: Mechanism of MMP14 control of bone mass via chondrocyte to osteoblast conversion
  • 2019–2022: Role(s) of TAGLN expressing cells in intervertebral disc development, homeostasis and degeneration
  • 2018–2020: Identification of Sox2 otic enhancers and their utility for restoring hearing and vestibular function
  • 2017–2020: Sox9 control of neuromesodermal progenitors

• 1997: Honorary Professor at Peking Union Medical College, Beijing China
• 2000: Croucher Foundation Senior Fellowship of HK and the HKU Outstanding Researcher award.
• 2011-2012: Senior External Fellow of the University of Freiberg Institute of Advanced Studies, Germany.
• 2013: Elected Fellow of The World Academy of Science (TWAS).

• Advisory Board: J. Biomedical Science, 1999–
• Editorial Board: Nature Scientific Reports, 2011–
• Editorial Board: Genesis, 2000–
• Editorial Board: Development Growth & Differentiation (DGD), 2006–
• Editorial Review Board: Journal of Orthopedic Research, 2019–2021
• Senior Editor: eLife, June 2019–
• Editorial Advisor: Emerging Topics in Life Sciences, 2019–2023