Paediatric genomics - what have we learnt so far?
In March 2019, PHG Foundation was pleased to welcome Professor Brian Chung of the University of Hong Kong to deliver a Bradford Hill Lecture. The chair was David Rowitch, Professor and Head of Paediatrics, University of Cambridge.
Read more about paediatric exome sequencing in Hong Kong here
Read more about genomic medicine in Hong Kong here
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 his talk, Prof Chung outlined the development of paediatric genomics in Hong Kong, notably:
- The rapid exome sequencing project in the neonatal intensive care unit (NICU) of the Hong Kong Children’s Hospital, led by the University of Hong Kong (HKU)
- A collaborative study between the Yale University 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 also discussed 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 other government-funded national genomic medicine initiatives around the world, including the UK 100,000 Genomes Project.
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.