the rare disease “heterotaxy syndrome” ” href=”https://www.hku.hk/f/news/22211/900p600/Group Photo.jpg” data-origin=”/f/news/22211/Group Photo.jpg”>HKUMed discovers a novel gene in causing the rare disease “heterotaxy syndrome” (from left: Dr Christopher Mak Chun-yu, Dr Brian Chung Hon-yin, Professor Cheung Yiu-fai and Dr Yeung Kit-san).
A research team at the Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong (HKUMed) discovered a novel gene CC2D1A that is associated with human heterotaxy, a spectrum of congenital disease that disrupts the arrangement of internal organs. It is the first time that CC2D1A is reported to be associated with heterotaxy in the literature. The ground-breaking findings have been published in the leading academic journal, Circulation: Genomic and Precision Medicine. [Link to the publication]