Paediatric genomics - What have we learnt so far?

13 March 2020

Free Lecture

Venue: Institute of Public Health, Cambridge

PHG Foundation is pleased to welcome Professor Brian Chung of the University of Hong Kong to deliver a Bradford Hill Lecture on Friday 13 March.

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



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.


This talk is part of the Bradford Hill seminars at the Cambridge Institute of Public Health. It is a free event with no need to pre-book tickets.

Further information is available here.

Professor Brian Chung

Clinical Associate Professor of the Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, the University of Hong Kong, Brian also 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 of the Hong Kong Department of Health.


Brian has served on the Working Group of the Hong Kong Hospital Authority Strategic Service Framework for Genetic & Genomic Services and 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

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