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Professor Choy Kwong Wai Richard

Professor, Department of Obstetrics and Gynaecology, CUHK

Research Theme

Genetics & Genomics

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Biography

Prof. Choy is an expertise in genomic medicine and molecular diagnosis. He co-founded the Prenatal Genetic Diagnosis Centre and Pre-implantation Genetic Diagnosis Laboratory at CUHK. The Centre has been accredited by The National Association of Testing Authorities, Australia (NATA) in 2012 with partial funding support by the Hospital Authority. 
His current research focuses on the development of the genomic technologies including low-pass whole-genome sequencing (Low-pass WGS) for paediatrics, prenatal diagnosis and reproductive medicine. He is the board member of the Hong Kong Society of Medical Genetics, Scientific committee members of various international organizations including the Asia Pacific Congress in Maternal Fetal Medicine.
He secured over 60 external competitive research grants including CRF, GRF, HMRF and ITF as Principal investigator (PI) and Theme-based Research Scheme and China Key programme grants as co-PI.

He has contributed over 230 articles in international peer review journals. H index = 44, He is an Editor board member of Human Genetics and Human Genome Variation.

  • PhD in Genetics, Department of Chemical Pathology, The Chinese University of Hong Kong
  • Development of novel molecular diagnostic strategies and innovative applications of molecular analysis tools in prenatal diagnosis. One of my research foci is on the development of the genomic technologies including chromosomal microarray analysis (CMA) and Low-pass whole genome sequencing (Low-pass WGS) for prenatal diagnosis and reproductive medicine.
  • Research in developmental genomic: studying human chromosome structure (copy number variation and chromosomal re-arrangements) and genome function (molecular mechanisms of normal and abnormal fetal development) in relation to birth defects and neurogenetics.
 
  • Genomic medicine
  • Prenatal and pre-implantation genetic diagnosis
  • Genetics
 
  • BSc (Brad.)
  • MSc(Med) (Birm.)
  • PhD (CUHK)
 
  • 2018-present Core member, Hong Kong Hub Of Paediatric Excellence, CUHK Research Institute at Hong Kong Children’s Hospital, CUHK.
  • 2016-present Core member, The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, CUHK.
  • 2013-present Deputy Director, CUHK-University of Utrecht Joint Centre for Language, Mind and Brain, CUHK.
  • 2013-present Director, Pre-implantation Genetic Diagnosis Laboratory, Department of Obstetrics & Gynaecology, CUHK.
  • 2011-present Director, Prenatal Genetic Screening and Diagnosis Laboratory, Prince of Wales Hospital.
  • 2011-present 研究员, 香港中文大学深圳研究院, 深圳
  • 2009-present Associate Member and Adjunct Professor of the “Reproduction, Development and Endocrinology” Theme, School of Biomedical Sciences, CUHK.
  • 2007-present Co-ordinator, Agilent Microarray Core Facilities, CUHK
  • 2006-present Honorary Scientific Officer (Medical), New Territories East Cluster, Hospital Authority.
  • 2005-present Deputy Director, Prenatal Genetic Diagnosis Centre, Department of Obstetrics & Gynaecology, CUHK
  • CHOY KW, DONG Z, CAO Y, YANG Z. Methods for detecting absence of heterozygosity by low-pass genome sequencing. US Provisional Application no: 62/894,491, filed on 08/30/2019
  • 2014- 2016 Chief Scientific Officer, Angsana Molecular & Diagnostics Laboratory Pte Ltd, Singapore.
  • Managing Director, Angsana Molecular & Diagnostics Laboratory (HK) Ltd. Hong Kong
 

Selected Publications

  • Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z. TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms. Nucleic Acids Res. 2023 Jan 6;51(D1):D1168-D1178.
  • Chung CY, Pan DJ, Paracchini S, Jiang W, So HC, McBride C, Maurer U, Zheng M, Choy KW. Dyslexia-related loci are significantly associated with language and literacy in Chinese-English bilingual Hong Kong Chinese twins. Hum Genet. 2023 Oct;142(10):1519-1529
  • Cao Y, Luk HM, Zhang Y, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM. Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders. Front Genet. 2022 Apr 14;13:803088.
  • Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton CC, Choy KW. Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics. Genet Med. 2021 Jul;23(7):1225-1233.
  • Liang Q, Gu W, Chen P, Li Y, Liu Y, Tian M, Zhou Q, Qi H, Zhang Y, He J, Li Q, Tang L, Tang J, Teng Y, Zhou Y, Huang S, Lu Z, Xu M, Hou W, Huang T, Li Y, Li R, Hu L, Li S, Guo Q, Zhuo Z, Mou Y, Cram DS, Wu L. A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA). J Mol Diagn. 2021 Sep;23(9):1195-1204.