Specialty
Clinical Genetics & Genomics

LinkedIn: www.linkedin.com/in/bhychung

Editorship or editorial board membership of scholarly journals

2024 – Present	Deputy Editor, npj Genomic Medicine
2024 – Present	Member, Editorial Board, European Journal of Medical Genetics
2023 – Present	Associate Editor for Mendelian Conditions, Human Genetics and Genomics Advances
2023 – 2025	Associate Editor, Editorial Board, Hong Kong Journal of Paediatrics
2023 – Present	Topic Editor, Genomics & Precision Health, Journal of Translational Genetics and Genomics
2022 – Present	Topic Editor, Genetics and Mechanism of Ciliopathies, Frontiers in Genetics
2020 – Present	Associate Editor, Editorial Board, Frontiers in Pediatrics
2020 – Present	Associate Editor, Editorial Board, Frontiers in Genetics
2019 – Present	Associate Editor, Editorial Board, npj Genomic Medicine
2019 – Present	Associate Editor, Genetic Epidemiology Section, BMC Medical Genetics
2019 – Present	Associate Editor, Genetic Epidemiology Section, BMC Medical Genomics
2019	Chief Editor, American Journal of Medical Genetics (Part C) Seminar series – June 2019 issue on Clinical Genetics in Asia
2018 – Present	Associate Editor, Editorial Board, American Journal of Medical Genetics (Part A)

 

Professional Societies

2025 – 2027	Immediate Past President, Asia Pacific Society of Human Genetics (APSHG)
2025 – Present	Member, Public Education & Awareness Committee (PEAC), American Society of Human Genetics (ASHG)
2025 – Present	ClinGen Computational Working Group
2024 – 2027	Member, Executive Committee and Scientific Program Committee, International Congress of Human Genetics (ICHG)
2024 – Present	Commissioner, The Lancet Commission on Rare Diseases
2024	Consultation for developing WHO guiding principles for human genome data sharing, World Health Organisation (WHO)
2023 – 2025	President, Asia Pacific Society of Human Genetics (APSHG)
2023 – 2024	Genetic Discrimination Subgroup, Global Alliance for Genomics and Health (GA4GH)
2021 – Present	Undiagnosed Disease Network International
2021 – 2023	Panel of Experts, Rare Diseases International – WHO Collaborative Global Network for Rare Diseases (CGN4RD)
2017 – Present	Autism Sequencing Consortium
2010 – Present	International Epigenome Consortium

1. Editor of Distinction Award (Editorial Contribution) – Recognized among the top 20% of editors for manuscript peer-review stewardship in Human Genomics and npj Genomic Medicine, Springer Nature (2026)
2. Excellence in Genetics Service Award – Association of Chinese Geneticists in America (ACGA) (2023)
3. Top 5 Editor’s Choice in Genetics in Medicine – Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations (2023)
4. Reviewers’ Choice – Shortlisted abstract for American Society of Human Genetics Annual Meeting on ‘amniotic fluid cells transcriptome in deciphering Mendelian disease’ (2022)
5. Health Longevity Catalyst Award – Co-Investigator of awarded project ‘Development of a smartphone app to predict and visualize risk of developing chronic diseases: integration of genetic risk and wearable data’, National Academy of Medicine (NAM) (2021)
6. Gold Award (Team Award) at the QS Reimagine Education Award and the Teaching Innovation Award for interprofessional education and collaborative practice (IPECP). Reimagine Education (2021)
7. Team Award for interprofessional education and collaborative practice (IPECP) of the Teaching Excellence Awards, HKU
8. Outstanding Teaching Award, Teaching Excellence Awards, HKU (2019)
9. Best Paper Award – Teaching and Learning Physical Examination in the Clinical Setting: Authentic Assessment of Competencies for Independent Professional Practice; 2019 World Federation for Medical Education WFME Conference (shared with Dr Pamela Lee)
10. Sir Patrick Manson Gold Medal (2018) – Clinical application of whole-genome technologies on Paediatric Rare Diseases
11. Faculty Teaching Medal (2018)
12. Audience Award, Free paper, Frontiers in Medical and Health Sciences Education (2018)
13. Award of Merit, Free paper, Frontiers in Medical and Health Sciences Education (2018)
14. Best Young Investigator Prize – Hong Kong College of Paediatricians (2017)
15. Knowledge Exchange Awards 2017 – Little People Care Alliance; Li Ka Shing Faculty of Medicine (2017)

Dr Brian Chung is a clinical geneticist whose work bridges genomic discovery and direct patient care, spanning rare disease diagnosis, genetic syndrome discovery, AI-assisted genomic analysis, and the development of population-scale genomic medicine infrastructure in Hong Kong.

Dr Chung spearheaded the Hong Kong Genome Project (HKGP), a government-funded initiative with a budget of HK$1.3 billion, which has enrolled over 52,000 participants from more than 37,000 families. In its pilot phase, the project sequenced the genomes of patients with undiagnosed rare diseases and achieved a combined diagnostic yield of 28% (24% from short-read genome sequencing alone, with an additional 4% through long-read sequencing), comparable to leading international programmes such as the UK 100,000 Genomes Project, with 77% of diagnosed patients experiencing a positive impact on their clinical management. A flagship paper reporting population-scale outcomes across the full HKGP cohort was published in Nature Medicine in May 2026.

His team has pioneered AI-driven approaches to genomic diagnosis, including an AI framework that integrates machine-learning facial analysis with DNA methylation signatures to improve syndrome delineation and variant classification, published as a cover story in eBioMedicine in 2025 (PMID: 40280028). He also led the development of AI-CURA, a large language model-driven variant classification system integrating prompt engineering and retrieval-augmented generation, which achieved 98.8% concordance with expert genomicists while reducing analytical time by 60%, accepted by Science Translational Medicine in 2026. Together, these advances are helping bring faster and more accurate diagnoses to patients with complex genetic conditions.

Through deep clinical expertise and international collaboration, Dr Chung has contributed to the discovery of several new genetic disorders, including CC2D1A-related heterotaxy syndrome, MN1 C-terminal Truncation Syndrome, DDX39B-related neurodevelopmental disorder, and PSMF1-related neurodegenerative disorder. His research has also quantified the societal burden of rare diseases in Hong Kong, finding that 1 in 67 people are affected, with an average socio-economic cost of US$62,000 per patient per year, providing the local evidence base for genomic medicine and rare disease policy development.

Dr Chung is Commissioner of the Lancet Commission on Rare Diseases, one of only two representatives from China, and served as President of the Asia Pacific Society of Human Genetics from 2023 to 2025. As Interim CEO and Chief Medical and Scientific Officer of the Hong Kong Genome Institute, he represents Hong Kong in international bodies including the WHO and the Global Alliance for Genomics and Health (GA4GH).

1. Ying D, Cheung CL, O CK, Lam WKJ, Au Yeung SL, Lau CS, Luk HM, Leung CKS, Tse DMS, Liu JSC, Hue SPY, Kwok JSL, Yeung DLH, Preusch CB, Ma W, Tang W, Tong AHY, Au LWC, Chan JC, Chan YH, Cheng SSW, Chong SC, Fung CW, Ho S, Krishnamoorthy S, Leung GM, Li PH, Li Q, Loong HH, Lui RNS, Luo S, Ma BM, Ma RCW, Na R, Tan KCB, Wong SS, Lo SV; Hong Kong Genome Project; Chu ATW, Chung BHY. Population-scale genomic medicine with the Hong Kong Genome Project. Nat Med. 2026 May 15. (IF: 50)
2. Tang W, Lo CWS, Chu ATW, Lee WL, Wang D, Kiang KM, Li LF, Leung GKK; Hong Kong Genome Project; El Helali A*, Chung BHY*. Mapping glioblastoma's isoform diversity using long-read single-cell analysis. Nat Commun. 2026 Apr 23. * Co-corresponding authors (IF: 15.7)
3. Ma W, Fong G, Lai J, Wu H, Hue SPY, Ying J, Chen L, Tang W, Preusch C; Hong Kong Genome Project, Chu ATW, Chung BHY. AI-CURA, an automated LLM framework for high-accuracy genetic variant classification. Science Translational Medicine. 2026. (IF: 14.7) (Accepted: 13 May 2026)
4. Booth KTA, Jangam SV, Chui MMC, Treat K, Graziani L, Soldano A, Ruan Y, Wan-Hei Hui J, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Baptista J, Iancu D, Joss SK, Wong SYY, Mak CCY, Kwong AKY, Bellen HJ, Conboy E, Sanges R, Leung AY, Wangler MF, Chung BHY*, Vetrini F*. De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Aug 1;148(8):2658-2670. * Co-corresponding authors (IF: 11.7)
5. Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY*, Gordon CT*. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 Jan 1;143(1):55-68. *Co-corresponding Author (IF: 11.7)

   An online registry has been established for MCTT syndrome and electronic articles have also been published:

   Online Registry for MN1 gene (https://humandiseasegenes.nl/mn1/)

   GeneReviews® (https://www.ncbi.nlm.nih.gov/books/NBK560443/)

   National Organization for Rare Disorders (NORD) (https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/)

   POSSUMweb dysmorphology database (https://www.possumcore.com/ - Syndrome 7348)

6. Pang C, Chui MM, Tang W, Kwong AK, Leung HYC, Fan SS, Kwok AW, Chan GC, Luk HM, Wong RM, Yang W, Lo IF, Fung CW, Tung JY, Liu AP, Yeung KS, Wong SS, Mak CC, Chung BHY. Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches. EBioMedicine. 2026 May 28;128:106313. (IF: 10.8)
7. Mak CCY, Klinkhammer H, Choufani S, Reko N, Christman AK, Pisan E, Chui MMC, Lee M, Leduc F, Dempsey JC, Sanchez-Lara PA, Bombei HM, Bernat JA, Faivre L, Mau-Them FT, Palafoll IV, Canham N, Sarkar A, Zarate YA, Callewaert B, Bukowska-Olech E, Jamsheer A, Zankl A, Willems M, Duncan L, Isidor B, Cogne B, Boute O, Vanlerberghe C, Goldenberg A, Stolerman E, Low KJ, Gilard V, Amiel J, Lin AE, Gordon CT, Doherty D, Krawitz PM, Weksberg R*, Hsieh TC*, Chung BHY*. Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics. EBioMedicine. 2025 May;115:105677. * Co-corresponding authors (IF: 10.8)
8. Lam WKJ, Lau CS, Luk HM, Au LWC, Chan GCP, Chan WYH, Cheng SSW, Cheng THT, Cheung LL, Cheung YF, Chong JSC, Chu ATW, Chung CCY, Chung KL, Fung CW, Fung ELW, Gao Y, Ho S, Hue SPY, Lee CH, Lee TL, Li PH, Lo HM, Man Lo IF, Loong HHF, Ma BM, Ma W, Pang SYY, Seto WK, Siu SWK, So H, Tam YH, Tang W, Wong RMS, Yap DYH, Yau MLY, Chung BHY*, Lo SV*; Hong Kong Genome Project. The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project. Lancet Reg Health West Pac. 2025 Jan 28;55:101473. * Co-corresponding authors (IF: 8.1)
9. Chung CCY, Ng NYT, Ng YNC, Lui ACY, Fung JLF, Chan MCY, Wong WHS, Lee SL, Knapp M, Chung BHY. Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study. Lancet Reg Health West Pac. 2023 Feb 23;34:100711. (IF: 8.1)
10. Chung CCY, Leung GKC, Mak CCY, Fung JLF, Lee M, Pei SLC, Yu MHC, Hui VCC, Chan JCK, Chau JFT, Chan MCY, Tsang MHY, Wong WHS, Tung JYL, Lun KS, Ng YK, Fung CW, Wong MSC, Wong RMS, Lau YL, Chan GCF, Lee SL, Yeung KS, Chung BHY. Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs. Lancet Reg Health West Pac. 2020 Jul 24;1:100001. (IF: 8.1)
11. Xi AMC, Yeung DLH, Ma W, Ying D, Tong AHY, Or D, Hue SPY, Project HKG, Chu AT, Chung BHY. Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project. Brief Bioinform. 2025 Aug 31;26(5):bbaf475. (IF: 7.7)
12. Ng NYT, Tang JY, Zhao JV, Mak CCY, Chung BHY. Mendelian randomisation reveals modifiable pathways and epigenetic markers from childhood maltreatment to neuropsychiatric disorders. Br J Psychiatry. 2025 Nov 4:1-11. (IF: 7.6)
13. Chen YL*, Chung BHY*, Mimaki M, Uchino S, Chien YH, Mak CC, Peng SS, Wang WC, Lin YL, Hwu WL, Lee SJ, Lee NC. NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish. Cell Death Discov. 2025 Mar 1;11(1):82. * Co-first authors (IF: 7.0)
14. Chu ATW, Chung CCY, Luk HM, Cheng SSW, Hayeems R, Luca S, Chung BHY. The clinical utility of genome sequencing is multi-dimensional: experience from the Hong Kong Genome Project. Commun Med (Lond). 2026 Feb 20;6(1):174. (IF: 6.3)
15. Ma ACH, Mak CCY, Yeung KS, Pei SLC, Ying D, Yu MHC, Hasan KMM, Chen X, Chow PC, Cheung YF, Chung BHY. Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction. Circ Genom Precis Med. 2020 Dec;13(6):e003000. (IF: 5.5)
16. Boycott KM, Giugliani R; Commissioners of the RDI–Lancet Commission on Rare Diseases (AlAbdi L, …Chung BHY,… Zhang S). The RDI-Lancet Commission on Rare Diseases: improving visibility to address health-care disparities for 400 million people. Lancet. 2025;405(10479):605-607. (IF: 88.5)
17. Goranitis I, Hayeems RZ, Smith HS, Buchanan J, Weymann D, Regier DA, Mackley MP, Scott RH, Hill SL, Chung BHY, Chung CCY, Best S, Baple EL, Stark Z. Determining the value of genomics in healthcare. Nat Med. 2025 Dec;31(12):4022-4033. (IF: 50)
18. Bradley CA, Ko SY, Tian M, Ralph LT, D'Abate L, Lee J, Liu T, Wang J, Tidball P, Mendes M, Fan X, Howe JL, Alexandrova R, Pellecchia G, Casallo G, Paton T, Wybenga-Groot LE, Engchuan W, Thiruvahindrapuram B, Trost B, de Rijke J, Kadia A, Jin F, Salazar NB, Diaz-Mejia JJ, MacDonald JR, Deneault E, Ross PJ, Ellis J, Shum C, Georgiou J, Rennie O, Reuter MS, Hoang N, Sarikaya E, Selvanayagam T, Amini AE, Rutherford A, Rivera-Alfaro N, Marshall CR, Scala M, Runke CK, Kearney HM, Christodoulou J, Francis DI, Chung BHY, Pluciniczak J, Iaboni A, Wigby KM, Nordahl CW, Amaral DG, Hudson ML, Sjaarda CP, Guerin A, Elsabbagh M, Landa R, Mital S, Lesurf R, Jain A, Wilson MD, Ellegood J, Lerch JP, Lee LJ, Frey BJ, Salter MW, Vorstman JAS, Anagnostou E, Frankland PW, Collingridge GL, Scherer SW. An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism. Nature. 2026 May 13. (IF: 48.5)
19. Magrinelli F, Tesson C, Angelova PR, Rodriguez JA, Scardamaglia A, O'Callaghan B, Lowe SA, Salazar-Villacorta A, Chung BHY, Jaconelli M, Vona B, Esteras N, Mammana A, Shimazu J, Kwong AK, Courtin T, Alavi S, Maroofian R, Nirujogi R, Severino M, Monfrini E, Rocca C, Lewis PA, Efthymiou S, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Baiardi S, Volin M, Cassar M, Hassan BA, Iftikhar S, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Cavallieri F, Santangelo M, Obeso JA, Kurtis MM, Cogan G, Kiziltan G, Gül-Demirkale T, Tireli H, Yüksel GA, Yalçın-Cakmakli G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Alvi JR, Sultan T, Alkhawaja IA, Froukh T, Alrukban HAE, Anjum MN, Saeed A, Cheema HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Di Fonzo A, Bonifati V, Haack TB, Bertoli-Avella AM, Lesage S, Başak AN, Steinfeld R, Parchi P, Jepson JEC, Alessi DR; PSMF1 Study Group; Brice A, Steller H, Abramov AY, Bhatia KP, Houlden H. Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality. Nat Commun. 2026 Apr 15. (IF: 15.7)
20. Wang M, Helal S, Torabi-Marashi A, Goodman S, Kallurkar P, Truong TK, Mizrahi-Powell E, Evrony GD, Chacon-Fonseca I, Valenzuela Palafoll I, Kannu P, Piton A, Chitayat D, Boerkoel CF, Mendoza-Londono R, Ortigoza-Escobar JD, Kwint M, Rots D, Kleefstra T, Wojcik MH, Scherer SW, Chung BHY, Ko JM, Bjornsson HT, Harris JR, Choufani S, Weksberg R. A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine. Am J Hum Genet. 2026 May 13:S0002-9297(26)00160-6. (IF: 8.1)

Dr Chung has served as the Education Committee Chairman of the Department 2017 - 2021 (co-chairman: Dr Pamela Lee).

He has served as the secretary of the Subspecialty Board of Genetics Genomics of the Hong Kong College of Paediatricians from 2018 - 2020. Now he is a member of the Subspecialty Board.

Dr Chung has achieved the status of Fellow (FHEA) in recognition of attainment against the UK Professional Standards Framework for teaching and learning support in higher education.

Teaching philosophy

I believe great teachers provide the environment and insights for the students to learn proactively and independently. I believe that clinical educators shall go beyond content knowledge and foster critical thinking and problem-solving skills (clinical reasoning). It is also particularly important to be clear about the relevance of the learning process to clinical practice. I take every opportunity to make use of real-life scenarios e.g. use of real patients or personal experience to enhance the student learning process. I strongly believe that learning should be patient-centered, as we are training future doctors to manage patients not only professionally but also humanely.

1) The learning process begins by identifying the gaps in the student's mindset, knowledge, and skills such that the student recognizes areas for development. Through effective feedback and techniques of self-reflection, our future doctors are equipped for their journey of self-long learning.

2) The learner must understand the relevance of the information in the clinical care of the patients. The use of real-life experiences in clinical practice is a powerful tool to engrave the relevance of the knowledge to their future practice as a doctor.

3) The ultimate aim of learning is not to be a good student but a good doctor, someone that can be entrusted with the important responsibilities of the health of Hong Kong citizens.

As a student (1995-1999) and teacher (2000-present) growing up in HKU, I embrace HKU’s vision to provide a “total learning experience”. The key institutional educational aims (https://tl.hku.hk/tl/) match a lot of my core values in teaching: critical intellectual inquiry, life-long learning, critical self-reflection, collaboration, global citizenship and advocacy for the improvement of human conditions. In recognition of my contribution to teaching and curriculum development, I was awarded two teaching awards (LKS Faculty of Medicine Faculty Teaching Medal 2018 and HKU Outstanding Teaching Award 2019). These recognitions established a robust foundation for clinical teaching in paediatrics and positioned me for subsequent leadership in genomic medicine education.

E-Learning Platform in Genetics

Clinical Genetics 臨床遺傳科

Dr BHY Chung provides specialist clinical genetics service for patients and families affected by, or at risk of, genetic disorders across all ages. His service includes diagnostic evaluation of genetic conditions, risk assessment for individuals with a personal or family history of genetic disease, and genetic counselling to support informed decisions on health management and future family planning.

Together with the Clinical Genetics team under the Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital and The University of Hong Kong, he serves a wide range of patient groups, including children with developmental delay or learning difficulties, individuals with known or suspected genetic conditions, pregnant couples with abnormal prenatal test results, and couples at risk of having a child affected by a genetic disorder. The team also collaborates with the Prenatal Diagnostic Unit and Reproductive Medicine in providing genetic counselling service for patients in the Department of Obstetrics and Gynaecology.

Knowledge Exchange Awards

As the only clinical geneticist working in HKU, I have leveraged the unique position to lead high-impact interdisciplinary collaboration across faculties. Early career contributions included a departmental project on “A series of books on important paediatric diseases for the public” (Faculty KE Award 2011). Since 2012, collaboration with Dr O Zayts (Faculty of Arts) on an inter-disciplinary academic initiative on genetic counseling, seeking to study, teach and enhance healthcare communication, has resulted in RGC-funded grants, postgraduate co-supervision, peer-reviewed publications, and the organization of the 13th Communication, Medicine and Ethics Conference.

Further KE leadership with Prof D Chan (School of Biomedical Science) and Dr M To (Orthopaedics) advanced the awareness of rare genetic bone diseases, leading to the establishment of the patient group - Little People of Hong Kong, multiple public symposiums & exhibitions, a bilingual booklet for the public, HKU Vision and campus TV videos, and a Big Brother Big Sister Mentorship Project. In the partnership with CEDARS, these initiatives integrated co-curricular learning activities, fostering students’ social responsibility and advocacy for the underserved communities. These sustained and impactful KE activities were awarded the Faculty KE Awards in 2013 and 2017.

Media Coverage of Research

2025

Media coverage on childhood maltreatment raises schizophrenia risk five-fold and leaves lasting genetic marks linked to neurodegenerative diseases

- HKUMed: HKUMed reveals childhood maltreatment raises schizophrenia risk five-fold and leaves lasting genetic marks linked to neurodegenerative diseases

- HKU Keynotes: HKUMed Reveals Pioneering Research Breakthrough Childhood Maltreatment Raises Schizophrenia Risk

- TVB.com: 報章要聞｜大公：研究指童年受虐思覺失調風險增

- i-Cable: 港大醫學院：童年受虐可致基因留「標記」思覺失調風險增近五倍

- Medical Xpress: Childhood maltreatment leaves genetic scars tied to lifelong mental health risks

- Mirage News: HKUMed: Child Maltreatment Boosts Schizophrenia Risk

- bastillepost.com: HKUMed Reveals Childhood Maltreatment Raises Schizophrenia Risk Five-fold and Leaves Lasting Genetic Marks Linked to Neurodegenerative Diseases

- Ming Pao: 港大醫學院分析14萬宗兒童受虐經歷 揭童年受虐者思覺失調風險增5倍

- ON.CC (Instant News): 研究指兒時受虐 精神疾病風險倍增 思覺失調高5倍ADHD增9倍

- Oriental Daily: 港大揭童年受虐 患思覺失調高5倍

- HKET: 兒童受虐損基因 精神病風險「倍數」飈

 

2022

Media coverage on the discovery of diagnostic potential of the amniotic fluid cells RNA-sequencing in deciphering rare diseases

- HKUMed: HKUMed discovers a diagnostic potential of the amniotic fluid cells RNA-sequencing in deciphering rare diseases
- Topick: 【產前檢查】港大團隊發現孕婦羊水細胞RNA 測序　可診斷胎兒未確診罕見病
- HK01: 港大醫學院揭羊水細胞RNA檢測　可更精準診斷罕見病
- 東網: 港大研究驗孕婦羊水做RNA測序　可診斷胎兒潛在罕見病
- 晴報: 港大研產前RNA測序 懷孕16至24周羊水細胞 助診斷罕見病
- HealthyD: 產前檢查｜港大醫學院揭羊水細胞RNA測序有助產前診斷罕見病基因
- Yahoo!新聞: 港大發現羊水RNA測序 可診斷胎兒患罕見病風險
- EurekAlert!: HKUMed discovers a diagnostic potential of the amniotic fluid cells RNA-sequencing in deciphering rare diseases
- News-medical.net: Study shows the clinical utility of amniotic fluid cells RNA-sequencing in prenatal rare disease diagnosis
- Science Daily: Diagnostic potential of the amniotic fluid cells RNA-sequencing in deciphering rare diseases
- Inside Precision Medicine: RNA Sequencing of Amniotic Fluid Could Help Guide Pregnancy Management

 

2021

Media coverage on the identification of rarely documented pharmacogenetic variants in Hong Kong Chinese

- University of Cambridge PHG Foundation: International lessons for personalised medicine
- HKUMed: HKUMed identifies rarely documented pharmacogenetic variants commonly found among Hong Kong Chinese, highlighting the potential for personalised medicine
- 頭條日報: 港大醫學院發現港人帶有罕見基因變異 或影響不良反應及藥效
- 經濟日報: 港大發現99.6%港人基因對最少一種藥物過敏　倡記錄病人對本地36種常用藥物基因測試增處方藥成效
- 東網: 港大研究揭港人有罕見基因變異　或影響藥效及不良藥物反應
- 經濟一周: 港人多款常用藥受基因變異影響 港大：個人藥物處方減不良反應
- 香港商報: 港大醫學院以香港華人為對象研究與藥物有關的基因變異
- 巴士的報: 港大醫學院發現港人帶有罕見基因變異 或影響不良反應及藥效
- 經濟通: 9成9港華人帶基因變異，影響36種藥物藥效！邊3種藥最受影響？
- UrbanLife: 4歲腦癇女嚴重藥物過敏、全身皮膚潰爛似燒傷　港大研究：99.6%港人有影響藥物效果基因變異
- 星島: 港大醫學院發現港人帶有罕見基因變異 或影響不良反應及藥效
- AM730: 港人多款常用藥受基因變異影響 港大：個人藥物處方減不良反應
- 晴報 ULifestyle: 9成9港華人帶基因變異 影響藥效
- The Standard: Study boosts potential of personalized drugs
- 橙新聞: 指港人帶有罕見基因變異　港大：或引致藥物不良反應
- 關心您的心: 港人多款常用藥受基因變異影響 港大：個人藥物處方減不良反應
- 条条闻: 港大:香港人有罕见基因变异 对中国疫苗不良反应强烈
- 京港學術交流中心: 港大醫學院發現常見於香港華人但罕被記載而與藥物有關的基因變異 揭示個人化醫療潛力

 

2021

Media coverage on the discovery of the novel gene CC2D1A for human heterotaxy.

- HKUMed: HKUMed discovers a novel gene in causing the rare disease “heterotaxy syndrome”
- Oriental Daily: 港大發現器官排列錯位是染色體作祟　有助病人作基因診斷
- AM 730: 治療曙光 罕見病「內臟錯位」 港大證涉基因異變
- HKET: 港大醫學院首次發現異位綜合症成因 冀助病人進行更精準基因診斷
- 晴報 ULifestyle: 港大揭基因異變 可致罕見內臟錯位
- Facebook: HKUMed discovers a novel gene in causing “heterotaxy syndrome”
- HKUMed: HKUMed scientists lead discovery of two master genes critical for hearing, providing a guide for diagnosis of deafness and balance problems

PhD / Postdoctoral Alumni

• Dr Yeung Kit San
  Postdoctoral Fellow, HKU 2020-2021
  PhD, HKU 2017
  Current Position: Scientific Officer (Medical), Department of Pathology, Hong Kong Children's Hospital


• Dr Leung KC Gordon
  PhD, HKU 2018
  Current Position: Scientific Officer (Medical), Department of Pathology, Hong Kong Children's Hospital


• Dr Steven LC Pei
  Postdoctoral Fellow, HKU 2016-2018
  PhD, HKU 2016
  Current Position: Research Scientist, Brigham and Women's Hospital / Harvard Medical School


• Dr Marcus CY Chan
  MRes (Med), HKU 2020 (With Mr & Mrs SH Wong Foundation Scholarship)
  MBBS, HKU 2021
  Current Position: Resident, Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital


• Jasmine Fung
  Research Assistant and Genetic Counsellor, HKU 2017-2021
  Current Position: Genetic Counsellor, Hospital Authority, Hong Kong


• Dr Mullin Yu
  PhD, HKU 2022
  Current Position: Head of Operation (Bioinformatics), Hong Kong Genome Institute


• Dr Mandy HY Tsang
  PhD, HKU 2016 - 2022 (Part Time)
  Current Position: Scientific Officer (Medical), Department of Pathology, Hong Kong Children's Hospital


• Dr Claudia Chung
  PhD, HKU 2022
  Current Position: Research Assistant Professor, Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong