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Paediatric Genomics - what have we learnt so far?

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Genomic sequencing is now in routine clinical practice. It has dramatically increased our ability to provide a molecular diagnosis for children with various medical problems. In this talk, Prof Chung will talk about the development of paediatric genomics in Hong Kong, highlighting: -

• The rapid exome sequencing project in NICU led by the University of Hong Kong (HKU).

• A collaborative study between Yale and HKU on exome re-analysis that has resulted in positive outcomes.

• The discovery of a new neurodevelopmental syndrome, caused by truncating mutations in the C-terminus of MN1 proto-oncogene, a transcriptional regulator via international collaborations. This condition is named MN1 C -terminal truncation (MCTT) syndrome.

Prof Chung will also share with attendees the recent development of the Hong Kong Genome Project led by the Steering Committee on Genomic Medicine which is part of the Hong Kong Government’s Food & Health Bureau. This project is inspired by the UK 100 ,000 Genomes Project and other government-funded national genomic medicine initiatives around the world.


Brian H.Y. Chung is a Clinical Associate Professor of the Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, the University of Hong Kong (HKU). He serves as Honorary Consultant Geneticist for the Hong Kong Children’s Hospital, Queen Mary Hospital, Duchess of Kent Children’s Hospital and the Clinical Genetic Services (Department of Health), Hong Kong.

Brian trained at HKU (2000-2006) and University of Toronto (the Hospital for Sick Children, 2007-2010), specializing in Paediatrics and Clinical Genetics. He is a fellow of the Canadian College of Medical Geneticists, and a founding fellow of the subspecialty of Genetics & Genomics (Paediatrics) of the Hong Kong Academy of Medicine (HKAM). He obtained a Master of Science degree in Genomics & Bioinformatics (Chinese University of Hong Kong) in 2013. He then obtained a Doctor of Medicine degree (HKU) in 2018, with the Sir Patrick Manson Gold Medal. His research focuses on (1) the clinical application of whole genome technologies, (2) clinical genetics & genetic counselling and (3) epigenetics & human diseases. He received the Best Young Investigator Prize of the Hong Kong College of Paediatricians in 2017.

Brian is responsible for the Paediatric and the new Precision Medicine (Clinical) curriculum of the Faculty of Medicine in HKU . In recognition of his effective and innovative teaching, Brian received a 2018 Faculty Teaching Medal and a HKU 2019 Outstanding Teaching Award. He was involved in drafting the postgraduate training curriculum of the subspecialty of Genetics & Genomics (Paediatrics) of HKAM in 2017. Brian has served on the Working Group of the Hong Kong Hospital Authority Strategic Service Framework for Genetic & Genomic Services and he is serving on the Working Group of Hong Kong Genome Project. Brian is currently the President-Elect of the Asia Pacific Society of Human Genetics.

This seminar will be chaired by Professor David Rowitch, Professor and Head of Paediatrics, University of Cambridge.

This talk is part of the Bradford Hill Seminars series.

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