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Administrative support: Ms Esther Lam

Telephone (office): (852) 3505-2982

Dr. CHONG Shuk Ching, Josephine

  • Clinical Professional Consultant and Associate Professor of Practice in Medical Genetics, Department of Paediatrics & Department of Obstetrics and Gynaecology

  • Deputy Clinical Director, The Chinese University of Hong Kong – Baylor College Joint Center for Medical Genetics

MBBS(HKU), MRCPCH, Msc in Medical Genetics(CUHK), DCH(Sydney), FHKCPaed, FHKAM(Paed), Fellow in Genetics & Genomics (Paediatrics)

Clinical Team: Genetics and Genomics (Team Head)

Research Team: Genetics and Genomics


Dr. Josephine Chong received her medical degree from The University of Hong Kong. She then received her Paediatrics training in Prince of Wales Hospital. She was granted fellowship by the Hong Kong College of Paediatrician and the Hong Kong Academy of Medicine in 2010. Her further training as a metabolic fellow at Royal Children’s Hospital in Melbourne in 2011. She has completed a master degree in medical genetics in the Chinese University of Hong Kong in 2016. In 2017, Dr. Chong was accredited as one of the five first fellows of Genomic & Genetics Paediatrics subspecialty by Hong Kong College of Paediatricians.

Currently, Dr. Chong works as a clinical professional consultant in the Department of Paediatrics and Department of Obstetrics & Gynaecology of CUHK. She is the deputy director of the Joint BCM-CUHK Center for Medical Genetics. She is also the paediatrician in-charge of the newborn metabolic screening programme. Dr. Chong is a member of the central committee of clinical genetics of Hospital Authority. She is the vice-president of the Hong Kong Society of Inborn errors of metabolism, and she is the honorary secretary of Hong Kong Society of Medical Genetics.

Research Interests

  • Undiagnosed genetics disorders

  • Neuro-metabolic genetics

  • Inborn errors of metabolism disorders

Honorary Appointments

  • Honorary Consultant, Prince of Wales Hospital


  • Woman of Excellence Hong Kong 2019

  • Ten Outstanding Young Persons 2018

Selected Publications

  1. Hon KL, Chang M, Chong SC, Yuen YP, Tsui SK. Adverse Effects of Azathioprine in a Child and Her Mother with Eczema. Indian journal of pediatrics. 2018 May.

  2. Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Chong SC, Li Z, Liu J, Gui B, Brockhage R. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Human molecular genetics. 2017 Oct 5;26(24):4937-50.

  3. Hui J, Chong SC, Law LK, Lee LK, Chang S, Yau P, Yuen YP. One too many: intellectual disability secondary to undiagnosed phenylketonuria. Hong Kong medical journal= Xianggang yi xue za zhi. 2016 Oct 1;22(5):506-8.

  4. Hui J, Yuen YP, Law LK, Leung TY, Chong SC, Lai CY (2015) The first 21 months experience of a pilot expanded newborn metabolic screening programme in Hong Kong, SSIEM symposium 2015, Vol 38, Suppl. 1, S84

  5. Chong, J.S.C., (2014) Expanded Newborn Metabolic Screening: Working towards a mandatory screening programme in Hong Kong, Medical Bulletin. Vol. 19, No. 12, December 2014.

  6. Hui, J., Tang, N. L., Li, C. K., Law, L.   K., To, K. F., Yau, P., Fung, S.L.M., Chong, J.S.C., Tsung, L., Chiang, G., Fung, E., Cheung, K.L., Yeung, W.L., & Fok, T. F. (2014). Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations. Pathology-Journal of the RCPA, 46(5), 375-382.

  7. Hui, J., Yuen, Y. P., Chow, C. M., Chong, J., Chiang, G., Cheung, C. K., ... & Tang, N. L. (2013). Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children. World Journal of Pediatrics

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