HKUMed Uncovers Diagnostic Uses of Amniotic Fluid for Rare Diseases miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.
HKUMed identifies rarely documented pharmacogenetic variants commonly found among Hong Kong Chinese, highlighting the potential for personalised medicine.
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]