Dr Brian Hon-Yin Chung (鍾侃言)

MBBS(Hons, HKU), MSc(Genomics and Bioinformatics, CUHK), MD(HKU)

DCH(Ireland), MRCPCH (UK), FHKAM(Paediatrics), FRCPCH(UK), FCCMG(Clinical Genetics, Canada)



Clinical Associate Professor

Department of Paediatrics and Adolescent Medicine,

LKS Faculty of Medicine, The University of Hong Kong




Clinical Genetics & Genomics








(852) 2255-4482

(852) 2855-1523

Department of Paediatrics & Adolescent Medicine

Room 115, 1/F, New Clinical Building

102 Pokfulam Road, Queen Mary Hospital, Hong Kong



  1. Best Paper Award - Teaching and Learning Physical Examination in the Clinical Setting: Authentic Assessment of Multi-domain Competencies for Independent Professional Practice; 2019 World Federation for Medical Education World Conference (shared with Dr Pamela Lee)
  2. Sir Patrick Manson Gold Medal (2018) - Clinical application of whole-genome technologies on Paediatric-onset rare diseases
  3. Faculty Teaching Medal (2018)
  4. Audience Award, Free paper, Frontiers in Medical and Health Sciences Education (2018, shared with Dr Pamela Lee)
  5. Award of Merit, Free paper, Frontiers in Medical and Health Sciences Education (2018, shared with Dr Pamela Lee)
  6. Best Young Investigator Prize - Hong Kong College of Paediatricians (2017)
  7. Knowledge Exchange Awards 2017 - Little People Care Alliance; LKS Faculty of Medicine (2017, shared)
  8. Long Service Awards, After 15 Years of Service; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong (2016)
  9. Outstanding Oral Presentation Award - Identifying genetic mutations in patients with RASopathies using a new generation sequencing diagnostic pipeline in Hong Kong; Annual Scientific Meeting 2013, Hong Kong College of Paediatricians (2013)
  10. Outstanding Poster Presentation Award - Integration of chromosomal microarray into paediatric clinical care in Hong Kong; Annual Scientific Meeting 2013, Hong Kong College of Paediatricians (2013)
  11. Certificate of Excellence - Master of Science in Genomics & Bioinformatics; Division of Genomics & Bioinformatics, CUHK-BGI Innovation Institute of Trans-omics (2013)
  12. Outstanding Team award - The Hong Kong West Cluster (2012)
  13. 10-year Loyalty Award - Queen Mary Hospital (2010)
  14. First Runner-up Best Poster Presentation - 7th Asia Pacific Medical Education Conference (APMEC) (2010)
  15. One of the Top 4 submissions - 34th Annual Scientific Meeting, Canadian College of Medical Genetics (2010)
  16. Best Basic Research - Annual Research Day, Paediatrics, Hospital for Sick Children, Toronto (2010)
  17. Fellow Award - 30th Annual David W. Smith Workshop on Malformations and Morphogenesis (2009 & 2010)
  18. Silver Medal in Best Original Research Contest - Clinical Markers Useful in Enhancing Diagnostic Yield for Children with Global Developmental Delay (GDD); HK Academy of Medicine (2005)
  19. Most Outstanding Free Paper - (SMARD1) Spinal muscular atrophy with respiratory distress type 1 mutation in a Chinese boy; The 3rd Hong Kong Genetic Symposium 2005 (2005)





Medical application of whole-genome technologies


Using cutting-edge technologies including CNV arrays, whole exome/genome sequencing and detailed phenotypic evaluation, we identify novel variants/genes involved in the pathogenesis of human diseases. Current projects include:

  • Genetic Diagnosis of RASopathies using Next Generation Sequencing
  • Exome/whole genome sequencing of patients with congenital heart disease/neurodevelopmental disorders
  • whole exome sequencing of families with rare genetic syndromes


Clinical Genetics & Genetic Counselling


  • Disease burden, clinical manifestations & natural history of genetic syndromes
  • Communication/discourse analysis in genetic counseling in different clinical settings including inherited arrhythmia clinics, prenatal diagnosis, preimplantation genetic diagnosis (in collaboration with Dr Olga Zayts, Dept of English, HKU)


Epigenetics and Human Disease


Epigenetics is the study of heritable changes in gene expression or cellular phenotype caused by mechanisms other than changes in the underlying DNA sequence and it includes DNA methylation, chromatin remodeling, RNAi and prions/structural inheritance systems. Using various technologies including bisulphite-converted DNA pyrosequencing, MLPA and whole genome DNA methylation arrays, we study various common and rare disorders in which epigenetics and imprinting is implicated in the pathogenesis. Current projects include:

  • Whole genome DNA methylation studies in Chinese patients with SLE
  • Childhood imprinting disorders


Selected publications


Recent significant Publications:

  1. Choufani, S, Cytrynbaum C, Chung BHY, Turinsky A, Grafodatskaya D, Chen YA, Cohen A, Dupuis L, Butcher D, Siu MT, Luk HM, Lo I, Lam S, Caluseriu O, Stavropoulos D, Reardon W, Mendoza-Londono R, Brudno M, Gibson W, Chitayat D, Weksberg R.  NSD1 mutations generate a genome-wide DNA methylation signature.  Nature Communications 2015;6:10207. [doi:10.1038/NCOMMS10207][link]


    This is the first study reporting NSD1 specific DNA methylation signature in Sotos Syndrome and that loss of function mutation in NSD1 can deregulate the transcriptional balance of key developmental genes.  My role is to recruit & analyse a Chinese-specific cohort of patients with Soto Syndrome for validation of finding in the primary cohort. The DNA methylation signature has great potential to be used as functional validation for novel variants with unknown significance in Sotos Syndrome as well as other epigenetic developmental syndromes.


  2. Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Chung BHY,  Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.  Journal of Medical Genetics 2018;0(1-6) doi: 10.1136/jmedgenet-2018-105328 [link]


    Uniparental disomy (UPD) occurs when a person obtains both copies of the homologous chromosome from one parent. UPD can be associated with human diseases caused by disruption of genomic imprinting or homozygosity for a recessive trait. In this report, we describe the first human case of paternal UPD for chromosome 19 in monozygotic twins showing dysmorphic features and global developmental delay. Comprehensive genetics and DNA methylation analysis suggested that imprinting defects were considered a potentially important mechanism to explain the clinical features of the twins.


  3. Mak CCY, Leung GKC, Mok GTK, Yeung KS, Yang WL, Fung CW, Chan SHS, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BHY.  Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.   Npj Genomic Medicine 2018;3:19  doi: 10.1038/s41525-018-0056-5 [link]


    Working with children predominantly of Han Chinese origin, we sequenced the entire protein-coding portion of the genome for 104 patients with pediatric-onset genetic disease. We analyzed the DNA data to resolve any ambiguous interpretations, link the molecular findings with clinical records, identify ethnic-specific differences and, when necessary, request additional assays. This extra review process was sometimes laborious, taking several hours of the physician’s time, but ultimately led to a more comprehensive assessment in 16 of the 43 diagnoses successfully made. This overall diagnostic yield—41%—was comparable to previous studies in other populations.


  4. Yeung KS, Tso WWY, Ip JJK, Mak CCY, Leung GKC, Tsang MHY, Ying D, Pei SLC, Lee SL, Yang W, Chung BHY.  Identification of mutations in the PI3K-AKT-mTOR signaling pathway in patients with macrocephaly and developmental delay and/or autism.  Molecular Autism 8:66. Doi: 10.1186/s13229-017-0182-4 [link]


    This study illustrated that in patients with autism and/or developmental delay who also have macrocephaly, mutations in the PI3K-AKT-mTOR signaling pathway can be identified in nearly half of them. Both germline and somatic mosaicism can be the cause. This study showed that genetic testing should not be limited to PTEN, but also other genes in the PI3K-AKT-mTOR signaling pathway. In addition, sequencing should be performed with higher sequencing depth and in other tissues in order to detect low level of mosaicism.


  5. Chiu ATG, Chung CCY, Wong WHS, Lee SL, Chung BHY.  Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets.  Orphanet Journal of Rare Diseases 2018:12:147 [doi: https://doi.org/10.1186/s13023-018-0892-5] [link]


    The burden of rare diseases is important for healthcare planning but difficult to estimate. In this study, we have adopted the methodology set out in Western Australia to cross reference ORPHAcodes, a comprehensive classification and coding system for rare diseases developed by the international consortium Orphanet, and ICD-10, the 10th version of the International Classification of Diseases and Related Health Problems, to identify rare diseases-related admissions in health administrative datasets in Hong Kong. In the 7-million population, the prevalence of rare diseases was found to be 1 in 67, representing 1.5% of the whole population. This placed the estimated total inpatient cost for rare disease population at HKD$1,594,339,530 i.e. 4.3% of total inpatient cost in 2015-2016. The disparity reflects the importance of rare diseases in healthcare policies.


Full publication list


Link to Google scholar


Link to Scopus scholar


Link to ResearchGate





Editorship or editorial board membership of scholarly journals

  2012 - 2016 Secretary, Editorial Board, Hong Kong Journal of Paediatrics
  2017 - now Associate Editor, Editorial Board, Hong Kong Journal of Paediatrics (HKJP)
  2015 - 2017 MeMember, Editorial Board, American Journal of Medical Genetics (Part A)
  2018 - now Associate Editor, Editorial Board, American Journal of Medical Genetics (Part A)
  2019 – now Member, editorial board, npj Genomic Medicine
  2019 – now Associate Editor, Genetic Epidemiology Section, BMC Medical Genetics
  2019 Guest editor, American Journal of Medical Genetics (Part C) Seminar series – June 2019 issue on Clinical Genetics in Asia





Dr Chung serves as the Education Committee Chairman of the Department since 2017 (co-chairman: Dr Pamela Lee).

He also serves as the Secretary of the Subspecialty Board of Genetics & Genomics of the Hong Kong College of Paediatricians.


Teaching philosophy


Teaching Medicine is a difficult task. Among all the disciplines, Paediatrics is certainly among the most difficult to teach. Many medical students choose to keep a distance from the sick children simply because it is more demanding to interact and take care of these lovely, fragile little angels. However, it is my belief that Paediatrics is a discipline that provides good learning material for all students to acquire a board spectrum of knowledge, the skills of clinical reasoning and a good foundation to practice medicine in the most humane manner, even if they will not choose to become Paediatricians in the future.


As a teacher, my goal is to go beyond teaching content knowledge and foster critical thinking and problem-solving skills, which are essential for a good clinician. I believe that outcome is the most crucial element for curriculum design, implementation of teaching and its evaluation/assessment. I always make it clear to students that their ultimate aim is not to be a good student, but to be a good doctor and a team player that I will entrust with important responsibilities in patient care. Only by setting clear goals early in the learner’s journey, our future doctors will be able to acquire the knowledge, skills and competence to guarantee life-long learning and a successful career.


Books and book chapters



Clinical Service


Clinical Genetics 臨床遺傳科



Significant Achievement of Team Members


   "Every tree is known by its own fruit"



  • Award for Oral Presentation - 2nd Prize, 2018, Joint Annual Research & Scientific Meeting, Mr Mullin Yu
  • Young Investigator Award , 2017, Asia Society of Pediatric Research, Dr Winnie Tso
  • Young Investigator Award , 2017, Asia Society of Pediatric Research, Mr Steven Pei
  • Award for Oral Presentation - 1st Prize, 2017, Joint Annual Research & Scientific Meeting, Mr Christopher Mak
  • Best Fellow Dissertation Award, 2016, HK College of Paediatricians, Dr Victoria Tao
  • Outstanding Oral Presentation, 2016, 4th ASM - HK College of Paediatricians, Mr Gary Mok
  • Outstanding Oral Presentation, 2016, 4th ASM - HK College of Paediatricians, Ms Mandy Tsang
  • Outstanding Oral Presentation, 2015, 3rd ASM - HK College of Paediatricians, Dr Annisa Mak
  • First Runner-up, 2014, Golden Jubilee Scientific Meeting, Department of Paediatrics & Adolescent Medicine, HKU, Mr Gordon Leung
  • Outstanding Oral Presentation, 2014, 2nd ASM - HK College of Paediatricians, Mr Kit-San Yeung
  • Outstanding Oral Presentation, 2014, 2nd ASM - HK College of Paediatricians, Mr Christopher Mak
  • Outstanding Oral Presentation, 2014, 2nd ASM - HK College of Paediatricians, Mr Gordon Leung