The UK scientist Professor Sir David Weatherall, who was the first to show that a gene deletion could cause a human disease, has passed away.
Born in 1933, Professor Weatherall was a clinical scientist and haematologist. Through his research on the blood disorder thalassemia, he demonstrated that a gene deletion caused a severe form of the disease.
His work on the genetics of blood disorders such as thalassemia and sickle cell disease made the antenatal diagnosis of these diseases possible in early pregnancy.
'His characterisation of the mutations causing thalassaemia enabled numerous families to be offered genetic counselling and led to the eradication of thalassaemia in some parts of the world,' said the Medical Research Council Weatherall Institute of Molecular Biology (MRC WIMM). Professor Weatherall founded the institute at the University of Oxford in 1989.
'He was instrumental in setting up international consortia to tackle genetic diseases and working with the World Health Organisation had a passion for improving the management of common diseases in developing countries,' it added.
Professor Weatherall was a Fellow of the Royal Society, and received numerous accolades and awards. These included the Lasker prize in 2010 (see BioNews 583), and last year he was made Knight Grand Cross of the British Empire for services to medicine.
His colleagues acknowledged Professor Weatherall's 'enormous legacy'. Professor Doug Higgs, director of the MRC WIMM, said: 'For those of us who knew David well, he was the perfect friend and colleague. He was not only a great physician scientist, but also erudite and humorous. He will be very fondly remembered by us all.'
The British Society for Haematology tweeted:
BSH were saddened to learn of the death of our former President, Sir David Weatherall. President of BSH in 1980/81, Sir David leaves behind a great legacy and will be fondly remembered by all within the haematology community. pic.twitter.com/FX4sY1l5hC
— BSH - Haematology (@BritSocHaem) December 10, 2018
Jeremy Farrar, director of the Wellcome Trust, tweeted:
Very sad day-passing of David Weatherall-a true great,helped change medicine,public health & improved lives millions & inspired thousands people who themselves went on to make great contributions across world-a unique contribution @MRC_WIMM @wellcometrust https://t.co/l9gAmkqznE
— Jeremy Farrar (@JeremyFarrar) December 9, 2018
Many scientists referred to Professor Wetherall as an 'inspiration' on social media as well as an 'icon' or 'giant' of haematology and 'pioneer in molecular genetics'.