Yuet W. Kan has made many contributions to the genetics of human haemoglobin disorders. He introduced prenatal diagnosis of sickle cell anaemia and thalassaemia, initially using foetal blood analysis. He defined the arrangement of the duplicated alpha-globin genes, the different types of deletions in alpha thalassaemia and alpha-globin gene triplications. He also used molecular hybridisation to exclude homozygous alpha thalassaemia in a pregnancy at risk — the first time a DNA test was used in humans.
He discovered DNA polymorphism and its linkage to the sickle gene, used this linkage to apply DNA tests for this disease, and showed that the sickle gene arose more than once in the human population. He described nonsense mutation as the first molecular basis for beta thalassemia. These approaches are now used in many diseases. His current research uses genomic editing techniques to pursue treatment of these diseases by correcting the mutations in stem cells. He also introduced the naturally occurring delta 32 mutation of the CCR5 gene to render blood cells resistant to HIV infection.
Professional position
- Former Chairman, The Croucher Foundation
- Chair, Board of Adjudicators and Council Member, Shaw Prize Foundation
Subject groups
- Health and human sciences
Molecular medicine
Awards
Shaw Prize
For works on DNA polymorphism.
