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 |
---|---|---|---|
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 | |
Tsang, MCA | 2012-03-01 | HKWC’s Outstanding Team Award : K7 General Paediatric Team, P&AM, QMH | 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 | |
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 | |
2023-10-25 | Recipient of the ACGA Excellence in Genetics Service Award, 2023, Association of Chinese Genetics in America | Others | |
2020-09-01 | Fellow (FHEA) of Advance HE achievement, Sep 2020 | Research Achievement | |
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 | |
2021-12-01 | Team Award for Interprofessional education and collaborative practice (IPECP) of the Teaching Excellence Award, 2021, HKU | Others | |
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 | |
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 | |
2019-07-01 | Outstanding Teaching Excellence Awards: The Univesity of Hong Kong | Research Achievement |
Term Period | Position | Professional Societies |
---|---|---|
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 | |
2023 | Reviewer | Genetics in Medicine |
2023 | Reviewer | The Lancet Regional Health |
2016-2017 | Executive Committee Member | International Federation of Human Genetics Societies |
2016 | Member | European Society of Human Genetics |
2015 | Medical Advisor | HK Angelman Syndrome Foundation |
2012-present | Chief Editor | Hong Kong Paediatric Journal |
2013-present | Member | International Rare Disease Research Committee (IRDiRC) |
2015-present | Member | Central Committee (Genetics Service) |
2016-2017 | Reviewer | BMC Medical Genetics |
2015-09/2020 | Member | Grant Review Borad (GRB), Health and Medical Research Fund (HMRF) |
2012-present | Reviewer | PLoS ONE |
2015 | Expert Panel Member | The Hong Kong Paediatric Society |
2014-present | Reviewer | BMC Genetics |
2016 | Chair of Scientific and Medical Advisory Committee | HK Rare Disease Alliance |
2014 | Board Director | Association of Chinese Geneticists in America |
2010-present | Member | American Society of Human Genetics |
2016 | Member | American Society of Human Genetics |
2015 | Reviewer | Pediatric Research |
2014-2016 | Member, representing College of Paediatricians | Genetic Genomic Working Group, HK Academy of Medicine |
2014 | Reviewer | Research in Autism Spectrum Disorder |
2014 | Founding Member | 22Q Society |
2012-present | Life-time member | American Chinese Geneticists Association |
2012-present | Reviewer | British Medical Journal |
2014-present | Reviewer | Hong Kong Journal of Paediatrics |
2015 | Reviewer | Hong Kong Journal of Paediatrics |
2015 | Medical Advisor | HK Fragile X Syndrome Association |
2017-present | Honoary Secretary | Provisional Subspecialty Board in Genetics & Genomics Paediatrics (GGP) |
2014-present | Member | Task Force on Constitutional Genetics, HK Children Hospital |
2011 | Member | Member of the research team from HKU and publications of members related to Agamma and other primary immunodeficiency |
2015 | Medical Advisor | HK Marfan Syndrome Association |
2016 | Reviewer | The American Journal of Psychiatry |
2015 | Reviewer | Journal of Human Genetics |
2016 | Secretary | Asia Pacific Society of Human Genetics |
2012-present | Member | International 22q11.2 Deletion Consortium |
2015 | Reviewer | International Journal of Health Policy and Management |
2014 | Reviewer | Gene |
2014 | Reviewer | MRC Peer Review |
2013 | Honorary Advisor | Patients with Mucopolysaccharidosis, Chinese International School (CIS) Genes Group |
2012-present | Reviewer | The Journal of Genetic Counselling |
2015-2016 | Reviewer | British Journal of Clinical Pharmacology |
11/2017 | External Specialist | Programme Review Panel (PRP). Review of the Advanced Diploma in Nutriton/Advanced Diploma in Child and Adolescent Nutrition Programmes |
2018 | Member (GGP representative) | Training & Assessment Working Group |
2019 | Reviewer | Journal The Cerebellum |
2018-present | COC (Paediatrics) representative | Taskforce on the Hospital Authority Strategic Service, Framwork for Genetics & Genomic Services |
2017 | Reviewer | Human Mutation |
2018 | Member | Hospital Authority Strategic Service Framework for Genetic and Genomic Services |
2017 | Medical Advisor | Little People of Hong Kong |
2019 | Member | IT Subcommittee, HKCP |
2017-2020 | Associate Editor | Hong Kong Journal of Paediatrics |
2017 | Reviewer | BMC Medical Genomics |
2020 | Reviewer | European Journal of Human Genetics |
2020 | Reviewer | Clinical Chemistry |
2018 | Reviewer | Clinical Epigenetics |
2017 | Reviewer | Epigenomics |
05/2020-04/2021 | Reviewer | Parkinsonism & Related Disorder |
2018 | Reviewer | American Journal of Medical Genetics: Part A |
2018 | Reviewer | Gene Reviews |
2017 | Reviewer | Clinical Case Report |
2017 | Consultant | HK MPS & Rare Genetic Diseases Mutual Aid Group |
2018 | Mentor | Connect*ed @Enrichment |
2020 | Reviewer | Journal of Medical Genetics |
2019 | Reviewer | American Journal of Medical Genetics (Part C) |
2018 | Reviewer | BMC Pediatrics |
2018 | Member | Subgroup on Staff Expertise & Role Delineation, HA Strategic Service Framework for Genetic & Genomic Services (GGS SSF) |
2018-present | Secretary | Suspecialty Board in Genetics & Genomics |
10/2017-present | Clinical Professional Consultant (part-time) | Licentiate Examination, Medical Council of Hong Kong |
04/2020-05/2021 | Member, Editorial Board | The Malaysian Journal of Paediatrics and Child Health (MJPCH) |
2020 | Reviewer | The Malaysian Journal of Paediatrics and Child Health (MJPCH) |
2019 | Reviewer | Molecular Genetics & Genomic Medicine |
2018 | Member | Working Group on Hong Kong Genome Project |
2018 | Member | Working Group on Hong Kong Genome Project |
2017 | Reviewer | International Jouranl of Oral & Maxillofacial Surgery |
07/2017-present | eKG Advisor | Central Committee (Genetics Service) |
2018 | Reviewer | BMC Neuroscience |
2019 | Reviewer | Orphanet Journal of Rare Diseases |
2018 | Associate Editor | American Journal of Medical Genetics, Editorial Board |
2019 | Reviewer | Npj Genomic Medicine |
07/2018-07/2022 | Member | Committee on Special Programmes for Use of Drugs on Individual Patients |
2012 | Associate Member | Partner State Key Laboratory |
2014-present | Reviewer | Diagnostic Pathology |
2014-present | Honorary Secretary | HK Journal of Paediatrics |
2016 | Associate Editor | American Journal of Medical Genetics (Part A) |
06/2014-present | Expert panel | Training & Development for Clinical Genetics & Counselling |
2015 | Reviewer | European Journal of Pediatrics |
2014 | Reviewer | Orphanet Journal of Rare Diseases |
2015 | Reviewer | Journal of Clinical Sciences |
2014 | Reviewer | International Journal of Rheumatic Diseases |
2012-presnt | Reviewer | Hong Kong Medical Journal |
2014-2018 | Member | Board of Studies of Master of Research in Medicine, HKU |
2010-2018 | Member | Horizontal Group on Clinical Genetics, Development of Paediatric Services Plan for Hospital Authority |
2014 | Reviewer | Journal of Pediatric Genetics |
2016 | Member | Accreditation visiting team for Department of Health - Clinical Genetic Service (CGS) |
2014-2015 | Member of the Scientific & Resarch Subcommittee | Hong Kong College of Paediatricians |
2015-2016 | Reviewer | Human Molecular Genetics |
2015 | Executive Board Member | Hong Kong Rare Disease Alliance |
2014-present | Reviewer | BMJ case report |
2021-2023 | Editorial Board Member | Journal of Translational Genetics and Genomics |
2021 | Reviewer | Human Genetics and Genomics Advances |
2021 | Reviewer | Genetics of Common and Rare Diseases (specialty section of Frontiers in Pediatrics and Frontiers in Geneetics |
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 | Human Heredity |
2021 | Associate Editor | Frontiers in Genetics - Genetics of Common and Rare Disease Section |
2021 | Panel Member | Special Prenatal cases for WES/WGS, Maternal Fetal Medicine (MFM) |
2015 | Executive Committee Member | Little People of Hong Kong |
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