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SUMMARY:Paediatric Genomics - what have we learnt so far? - Professor Bria
 n H. Y. Chung\, Clinical Associate Professor of the Department of Paediatr
 ics\, Hong Kong University
DTSTART:20200313T130000Z
DTEND:20200313T140000Z
UID:TALK136177@talks.cam.ac.uk
CONTACT:Rosa Attwood
DESCRIPTION:Genomic sequencing is now in routine clinical practice. It has
  dramatically increased our ability to provide a molecular diagnosis for c
 hildren with various medical problems. In this talk\, Prof Chung will talk
  about the development of paediatric genomics in Hong Kong\, highlighting:
  -\n\n• The rapid exome sequencing project in NICU led by the University
  of Hong Kong (HKU).\n\n• A collaborative study between Yale and HKU on 
 exome re-analysis that has resulted in positive outcomes.\n\n• The disco
 very 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 trun
 cation (MCTT) syndrome.\n\nProf Chung will also share with attendees the r
 ecent development of the Hong Kong Genome Project led by the Steering Comm
 ittee on Genomic Medicine which is part of the Hong Kong Government’s Fo
 od & Health Bureau. This project is inspired by the UK 100\,000 Genomes Pr
 oject and other government-funded national genomic medicine initiatives ar
 ound the world.\n\n\nSpeaker:\n\nBrian H.Y. Chung is a Clinical Associate 
 Professor of the Department of Paediatrics & Adolescent Medicine\, LKS Fac
 ulty of Medicine\, the University of Hong Kong (HKU). He serves as Honorar
 y Consultant Geneticist for the Hong Kong Children’s Hospital\, Queen Ma
 ry Hospital\, Duchess of Kent Children’s Hospital and the Clinical Genet
 ic Services (Department of Health)\, Hong Kong.\n\nBrian trained at HKU (2
 000-2006) 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 Ac
 ademy of Medicine (HKAM). He obtained a Master of Science degree in Genomi
 cs & Bioinformatics (Chinese University of Hong Kong) in 2013. He then obt
 ained a Doctor of Medicine degree (HKU) in 2018\, with the Sir Patrick Man
 son Gold Medal. \nHis research focuses on (1) the clinical application of 
 whole genome technologies\, (2) clinical genetics & genetic counselling an
 d (3) epigenetics & human diseases. He received the Best Young Investigato
 r Prize of the Hong Kong College of Paediatricians in 2017.\n\nBrian is re
 sponsible for the Paediatric and the new Precision Medicine (Clinical) cur
 riculum of the Faculty of Medicine in HKU. In recognition of his effective
  and innovative teaching\, Brian received a 2018 Faculty Teaching Medal an
 d a HKU 2019 Outstanding Teaching Award. He was involved in drafting the p
 ostgraduate training curriculum of the subspecialty of Genetics & Genomics
  (Paediatrics) of HKAM in 2017. Brian has served on the Working Group of t
 he Hong Kong Hospital Authority Strategic Service Framework for Genetic & 
 Genomic Services and he is serving on the Working Group of Hong Kong Genom
 e Project. Brian is currently the President-Elect of the Asia Pacific Soci
 ety of Human Genetics.\n\nThis seminar will be chaired by Professor David 
 Rowitch\, Professor and Head of Paediatrics\, University of Cambridge.
LOCATION:Large Seminar Room\, 1st Floor\, Institute of Public Health\, Uni
 versity Forvie Site\, Robinson Way\, Cambridge
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