Paediatric genomics - What have we learnt so far?

Abstract

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.