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the rare disease “heterotaxy syndrome”
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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] ....

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