Professor Chung, Brian Hon Yin 鍾侃言
Professor Chung, Brian Hon Yin 鍾侃言
Dr Brian Hon-Yin Chung (鍾侃言)
MBBS(Hons), MRCPCH, DCH(Ireland), FHKAM(Paediatrics), Clinical Research Fellowship in Clinical & Metabolic Genetics (The Hospital for Sick Children, Canada), FCCMG(Clinical Genetics), MSc(Genomics and Bioinformatics)
Clinical Associate Professor
Department of Paediatrics and Adolescent Medicine,
LKS Faculty of Medicine,
The University of Hong Kong
Specialty
Clinical Genetics
Awards
2013- | 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- | 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- | Certificate of Excellence - Master of Science in Genomics & Bioinformatics; Division of Genomics & Bioinformatics, CUHK-BGI Innovation Institute of Trans-omics |
2012- | Outstanding Team award - The Hong Kong West Cluster 2010 - 10-year Loyalty Award - Queen Mary Hospital |
2010- | First Runner-up Best Poster Presentation - 7th Asia Pacific Medical Education Conference (APMEC) |
2010- | One of the Top 4 submissions - 34th Annual Scientific Meeting, Canadian College of Medical Genetics |
2009&2010- | Fellow Award - 30th Annual David W. Smith Workshop on Malformations and Morphogenesis |
2005- | 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- | 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 |
Research
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:
- Grafodatskaya D*, Chung BHY*, Butcher DT, Turinsky AL, Goodman SJ, Choufan S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE and Weksberg R. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 demethylase KDM5C. BMC Medical Genomics 2013;6(1):1-18. [*equal contributions]
- Grafodatskaya D, Chung BHY, Szatmari P and Weksberg R. Autism Spectrum Disorders and Epigenetics (with Editorial Comments). Journal of the American Academy of Child & Adolescent Psychiatry 2010;49(8):794-809.
- Chung BHY, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulous DJ, Elsea SH and Mendoza-Londono R. Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics 2012; 20(4):398-403.
- Fernandez BA, Roberts W, Chung BHY, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic Spectrum Associated with De Novo and Inherited Deletions and Duplications at 16p11.2 in Individuals Ascertained for Diagnosis of Autism Spectrum Disorder. Journal of Medical Genetics 2010;47(3):195-203.
- Chung BHY, Hinek A, Keating S, Weksberg R, Shah V, Blaser S, Hawkins C, Chitayat D. Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? American Journal of Medical Genetics Part A 2012;158A(10):2373-2381.
- Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Badeer GD, Bailey AJ, Baird G, Battaglia A. Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BHY,..., Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010;466(7304):368-372.
Education
Clinical Service
External Competitive Grants funded as Principle Investigator
RGC-General Research Fund: #HKU7653/11M, and #HKU7655/13M
Hong Kong Children's Heart Foundation 2011-2013, and 2013-2014 (#AR120015)
SK Yee Medical Foundation #212210, #211203, and #213217
SK Yee Medical Research Grants 2012-2015
Children's Catastrophic Disease Foundation 2013
Contact |
Email: Tel: Fax: Office:
|
(852) 22554482 (852) 28551523 Department of Paediatrics & Adolescent Medicine |
Awardees | Award Date | Honours / Awards / Prizes | Category |
---|---|---|---|
2023-10-25 | Recipient of the ACGA Excellence in Genetics Service Award, 2023, Association of Chinese Genetics in America | Others | |
2005-11-01 | Clinical Markers Useful in Enhancing Diagnostic Yield for Children with Global Developmental Delay (GDD) [Silver Medal in Best Original Research Contest]: HK Academy of Medicine | Research Achievement | |
2010-02-01 | Runner up poster presenter: Teaching and Learning Medical Genetics - An Interactive Workshop for Undergraduate Medical Students: 7th Asia Pacific Medical Education Conference | Teaching Accomplishment | |
Tsang, MCA | 2012-03-01 | HKWC’s Outstanding Team Award : K7 General Paediatric Team, P&AM, QMH | Research Achievement |
2021-12-01 | Team Award for Interprofessional education and collaborative practice (IPECP) of the Teaching Excellence Award, 2021, HKU | Others | |
2021-12-01 | Gold Award at the QS Reimagaine Education Award and the Teaching Innovation Award (an International award equi9valent to "Oscar of Education") for Interprofessional education and collaborative practice (PECP). Reimagine Education | Research Achievement | |
2020-09-01 | Fellow (FHEA) of Advance HE achievement, Sep 2020 | Research Achievement | |
2019-07-01 | Outstanding Teaching Excellence Awards: The Univesity of Hong Kong | Research Achievement | |
2019-04-01 | 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, Seoul, South Korea, 7-10 April 2019 | Research Achievement | |
2010-09-01 | In-vitro treatment with pravastain & dexamethasone normalizes abnormal deposition of elastic fibers in dermal fibroblasts derived from patients with restrictive dermopathy - possible therapeutic implications?: 31st Annual David W. Smith Workshop on Malformations and Morphogenesis, Seattle, USA, 27 August – 1 September 2010. [Fellow Award] | Teaching Accomplishment | |
2009-08-09 | From VACTERL-H to Heterotaxy - Variable Expressivity of ZIC3-related disorders: 30th Annual David W Smith Workshop on Malformations and Morphogenesis, Philadelphia, USA, 5-9 August 2009. [Fellow Award] | Teaching Accomplishment | |
2010-10-23 | Genome-wide epigenetic profiling shows evidence of crosstalk between histone modifications and DNA methylation in patients with the intellectual disability syndrome due to JARID1C mutations: Best basic research in the Department of Paediatrics Annual Research Day. Hospital for Sick Children, Toronto, 23 October 2010 | Research Achievement | |
2010-10-23 | Crosstalk between histone modificiations and DNA methylation in patients with intellectual disability due to JARID1C mutations: Canadian College of Medical Genetics. 34th Annual Scientific Meeting, Halifax, Nova Scotia, 21-23 October 2010. [One of the top 4 submissions] | Teaching Accomplishment | |
2018-12-01 | Teaching and learning physical examination in the clinical setting: Authentic assessment of multi-domain competencies for independent professional practice: Frontiers in Medical and Health Sciences Education 2018, LKS Faculty of Medicine, HKU, 19 Dec 2018 | Teaching Accomplishment | |
2018-12-01 | Faculty Teaching Medals 2018: LKS Faculty of Medicine, HKU, 14 Dec 2018 | Teaching Accomplishment | |
2018-12-01 | Monitoring learning outcome in Paediatric specialty clerkship using E-logbook: Frontiers in Medical and Health Sciences Education 2018, LKS Faculty of Medicine, HKU, 19 Dec 2018 | Teaching Accomplishment |
Term Period | Position | Professional Societies |
---|---|---|
2023 | Reviewer | The Lancet Regional Health |
2023 | Reviewer | Genetics in Medicine |
2021 | Panel Member | Special Prenatal cases for WES/WGS, Maternal Fetal Medicine (MFM) |
2021 | Associate Editor | Frontiers in Genetics - Genetics of Common and Rare Disease Section |
2021 | Reviewer | Human Heredity |
2020 | Member of Editorial Board (Review Editor) | Genetics of Common and Rare Diseases (specialty section of Frontiers in Pediatrics and Frontiers in Genetics) |
2021 | Reviewer | Genetics of Common and Rare Diseases (specialty section of Frontiers in Pediatrics and Frontiers in Geneetics |
2021 | Reviewer | Human Genetics and Genomics Advances |
2021-2023 | Editorial Board Member | Journal of Translational Genetics and Genomics |
2014-present | Reviewer | BMJ case report |
2015 | Executive Board Member | Hong Kong Rare Disease Alliance |
2015-2016 | Reviewer | Human Molecular Genetics |
2014-2015 | Member of the Scientific & Resarch Subcommittee | Hong Kong College of Paediatricians |
2016 | Member | Accreditation visiting team for Department of Health - Clinical Genetic Service (CGS) |
2014 | Reviewer | Journal of Pediatric Genetics |
2010-2018 | Member | Horizontal Group on Clinical Genetics, Development of Paediatric Services Plan for Hospital Authority |
2014-2018 | Member | Board of Studies of Master of Research in Medicine, HKU |
2012-presnt | Reviewer | Hong Kong Medical Journal |
2014 | Reviewer | International Journal of Rheumatic Diseases |
2015 | Reviewer | Journal of Clinical Sciences |
2014 | Reviewer | Orphanet Journal of Rare Diseases |
2015 | Reviewer | European Journal of Pediatrics |
06/2014-present | Expert panel | Training & Development for Clinical Genetics & Counselling |
2016 | Associate Editor | American Journal of Medical Genetics (Part A) |
2014-present | Honorary Secretary | HK Journal of Paediatrics |
2012 | Associate Member | Partner State Key Laboratory |
2014-present | Reviewer | Diagnostic Pathology |
2016-2017 | Reviewer | BMC Medical Genetics |
2015-present | Member | Central Committee (Genetics Service) |
2013-present | Member | International Rare Disease Research Committee (IRDiRC) |
2016 | Member | European Society of Human Genetics |
2012-present | Chief Editor | Hong Kong Paediatric Journal |
2015 | Medical Advisor | HK Angelman Syndrome Foundation |
2016-2017 | Executive Committee Member | International Federation of Human Genetics Societies |
2015-2016 | Reviewer | British Journal of Clinical Pharmacology |
2012-present | Reviewer | The Journal of Genetic Counselling |
2013 | Honorary Advisor | Patients with Mucopolysaccharidosis, Chinese International School (CIS) Genes Group |
2014 | Reviewer | MRC Peer Review |
2014 | Reviewer | Gene |
2015 | Reviewer | International Journal of Health Policy and Management |
2016 | Secretary | Asia Pacific Society of Human Genetics |
2012-present | Member | International 22q11.2 Deletion Consortium |
2015 | Reviewer | Journal of Human Genetics |
2016 | Reviewer | The American Journal of Psychiatry |
2015 | Medical Advisor | HK Marfan Syndrome Association |
2011 | Member | Member of the research team from HKU and publications of members related to Agamma and other primary immunodeficiency |
2014-present | Member | Task Force on Constitutional Genetics, HK Children Hospital |
2017-present | Honoary Secretary | Provisional Subspecialty Board in Genetics & Genomics Paediatrics (GGP) |
2015 | Medical Advisor | HK Fragile X Syndrome Association |
2015 | Reviewer | Hong Kong Journal of Paediatrics |
2014-present | Reviewer | Hong Kong Journal of Paediatrics |
2012-present | Reviewer | British Medical Journal |
2012-present | Life-time member | American Chinese Geneticists Association |
2014 | Founding Member | 22Q Society |
2014 | Reviewer | Research in Autism Spectrum Disorder |
2014-2016 | Member, representing College of Paediatricians | Genetic Genomic Working Group, HK Academy of Medicine |
2015 | Reviewer | Pediatric Research |
2016 | Member | American Society of Human Genetics |
2010-present | Member | American Society of Human Genetics |
2014 | Board Director | Association of Chinese Geneticists in America |
2016 | Chair of Scientific and Medical Advisory Committee | HK Rare Disease Alliance |
2014-present | Reviewer | BMC Genetics |
2015 | Expert Panel Member | The Hong Kong Paediatric Society |
2012-present | Reviewer | PLoS ONE |
2015-09/2020 | Member | Grant Review Borad (GRB), Health and Medical Research Fund (HMRF) |
07/2018-07/2022 | Member | Committee on Special Programmes for Use of Drugs on Individual Patients |
2019 | Reviewer | Npj Genomic Medicine |
2018 | Associate Editor | American Journal of Medical Genetics, Editorial Board |
2019 | Reviewer | Orphanet Journal of Rare Diseases |
2018 | Reviewer | BMC Neuroscience |
07/2017-present | eKG Advisor | Central Committee (Genetics Service) |
2017 | Reviewer | International Jouranl of Oral & Maxillofacial Surgery |
2018 | Member | Working Group on Hong Kong Genome Project |
2018 | Member | Working Group on Hong Kong Genome Project |
2019 | Reviewer | Molecular Genetics & Genomic Medicine |
2020 | Reviewer | The Malaysian Journal of Paediatrics and Child Health (MJPCH) |
04/2020-05/2021 | Member, Editorial Board | The Malaysian Journal of Paediatrics and Child Health (MJPCH) |
10/2017-present | Clinical Professional Consultant (part-time) | Licentiate Examination, Medical Council of Hong Kong |
2018-present | Secretary | Suspecialty Board in Genetics & Genomics |
2018 | Reviewer | BMC Pediatrics |
2018 | Member | Subgroup on Staff Expertise & Role Delineation, HA Strategic Service Framework for Genetic & Genomic Services (GGS SSF) |
2019 | Reviewer | American Journal of Medical Genetics (Part C) |
2020 | Reviewer | Journal of Medical Genetics |
2018 | Mentor | Connect*ed @Enrichment |
2017 | Consultant | HK MPS & Rare Genetic Diseases Mutual Aid Group |
2017 | Reviewer | Clinical Case Report |
2018 | Reviewer | Gene Reviews |
2018 | Reviewer | American Journal of Medical Genetics: Part A |
05/2020-04/2021 | Reviewer | Parkinsonism & Related Disorder |
2017 | Reviewer | Epigenomics |
2018 | Reviewer | Clinical Epigenetics |
2020 | Reviewer | Clinical Chemistry |
2020 | Reviewer | European Journal of Human Genetics |
2017 | Reviewer | BMC Medical Genomics |
2017-2020 | Associate Editor | Hong Kong Journal of Paediatrics |
2019 | Member | IT Subcommittee, HKCP |
2017 | Medical Advisor | Little People of Hong Kong |
2018 | Member | Hospital Authority Strategic Service Framework for Genetic and Genomic Services |
2017 | Reviewer | Human Mutation |
2018-present | COC (Paediatrics) representative | Taskforce on the Hospital Authority Strategic Service, Framwork for Genetics & Genomic Services |
2019 | Reviewer | Journal The Cerebellum |
2018 | Member (GGP representative) | Training & Assessment Working Group |
11/2017 | External Specialist | Programme Review Panel (PRP). Review of the Advanced Diploma in Nutriton/Advanced Diploma in Child and Adolescent Nutrition Programmes |
2001-2004 | Medical Counseller | Children Heart Foundation |
2006 | Director/Scientific Committee | Hong Kong Society of Medical Genetics |
2008-2010 | Board of Directors | Hong Kong Society of Medical Genetics |
2008 | Organising Committee Member | ACGA-HKSMG International Conference on Genetic and Genomic Medicine, Association of Chinese Geneticists in America & the HK Society of Medical Genetics |
2010 | Life-Time member | Asia Pacific Society of Human Genetics |
Member | Trainee Subcommittee, Education & Training Committee, Hong Kong College of Paediatricians | |
2006 | Member | Hong Kong Society for Paediatric Immunology and Infectious Diseases |
2012-present | Member | European Society of Human Genetics |
2006 | Organising Committee | Collaborative Autism Symposium, a joint event of HKU & University of Toronto, Canada |
2008 | Group Member | Global Developmental Delay Initiative's International Consensus Criteria Conference |
Member | Hong Kong Medical Association | |
Member | Hong Kong Paediatric Society | |
Fellow | Hong Kong College of Paediatricians | |
2015 | Executive Committee Member | Little People of Hong Kong |
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