Sir David Weatherall GBE FRS
David Weatherall is a haematologist and clinical researcher whose research has focused on the genetics of blood disorders affecting haemoglobin, particularly thalassaemia. He was the first to describe thalassaemia outside the Mediterranean and his work has led to the eradication of the disease in some parts of the world.
Through his work on thalassaemia, David demonstrated for the first time that a gene deletion could cause a human disease. He developed new methods for analysing haemoglobin and measuring the synthesis of alpha- and beta-haemoglobin chains. This provided the first clear evidence of how thalassaemia arises. In addition, David’s work made possible the detection of thalassaemia early in pregnancy, enabling antenatal diagnosis. His characterisation of the mutations causing thalassaemia led to numerous families being offered genetic counselling.
In 1989, David established the Oxford Institute of Molecular Medicine, which is now named in his honour. He was knighted in 1987. In 2010, he won the Lasker Award, a prestigious US medical research prize, and was the only scientist from outside the United States to win that year.
Interest and expertise
Alpha-thalassemia, Beta-thalassemia, Clinical genetics, Clinical epidemiology