Fifteen years ago

From hopelessness to hope

Bob Williamson celebrates the progress

It is hard to remember just how depressing the outlook was for people who had inherited diseases was only twenty years ago. “You sure drew the short straw, pal, but it’s in your genes, your parents passed it on to you and there is nothing we can do”, they were told by doctors. “Just put him away in an institution and start again.”

I spent many years, from 1960 to 1980, in London and Glasgow researching the genes for human (and mouse and rabbit) haemoglobin, the red protein that carries oxygen around the blood. I met patients with thalassaemia and sickle cell disease, and with my colleagues we isolated the genes and defined the DNA errors that cause the problems. We could offer carrier testing and prenatal testing for those who chose it, and (perhaps more remarkably) participate in changing the attitude of both doctors and patients from depression to hope. I then worked on cystic fibrosis, and we found where the gene was located in 1985 and helped the drive towards isolating the gene itself, and defining the mutations. Once again, one of the most exciting things for me is the way in which families were captivated and enthused by the science, and given hope by ‘the new genetics’.

In 1986 a remarkable woman, Sue Chamberlain, approached me at St Mary’s. Sue had just finished her PhD at the Hammersmith and was totally devoted to making some contribution to help those with Friedreich ataxia. When she told me about Friedreich ataxia, I became enthusiastic as well, because the condition has so many interesting features. Not only is there a loss of control over muscles (ataxia), but also a thickening of the heart muscle. Then Sue introduced me to some of those affected, such as the wonderful Andrew Blake (later to set up SIMR (Seriously Ill for Medical Research). With hindsight, even though we were not first to the gene, we did a lot of good work, helped with better diagnosis and increased interest in ataxia in the medical and scientific community. Perhaps most important, we empowered those with the disease and their families to better knowledge and understanding of where the science is going. Some truly innovative approaches to therapy are being studied in Britain, France and (by Panos Ioannou in the Institute to which I moved, the Murdoch in Melbourne) in Australia. The research has allowed us to move from hopelessness to hope, and indeed I am convinced that I will see the day soon when new medicines are available for those with ataxia that truly ‘make things better’.

Professor Bob Williamson, AO FRS, St Mary’s (Imperial College) London and the University of Melbourne and patron of Ataxia UK

Helpline: 0845 644 0606

Fifteen years ago

From hopelessness to hope

Bob Williamson celebrates the progress