How can studying rare diseases help those with more common conditions? To mark Rare Disease Day, Ellen Charman speaks to Professor Geoff Woods about how his discovery in Pakistan of a disease in which people don’t feel pain could lead to treatments for those who experience too much.
Can you tell me about this condition, congenital analgesia?
I first came across the condition when I was in Pakistan researching encephalopathy (diseases of the brain) and I was asked to see a boy who reportedly did not feel any pain. He was doing street theatre to earn money — walking across hot coals and putting daggers in his arms, and then going to the local children’s hospital to get patched up. Sadly, before I got the chance to see him, he’d jumped from a roof to amuse friends and walked away from it, but later died from a bleed in the brain.
When I came back to the UK, I asked around and found two families also affected by the condition. At first, due to the common inclination towards risky and dangerous activities, I assumed that those with the condition had a degree of intellectual disability; however, I later found their development to be normal, but without the sense of pain to modulate their behaviour. Read more
Tackling health problems around the world demands a global response. With a 100-year history of strategic international collaboration, MRC scientists today collaborate with researchers in more than 100 countries. Dr Mark Palmer, MRC Director of International Strategy, talks to Isabel Baker about the changing landscape of international collaboration and the exciting new opportunities it has to offer.
Has MRC-funded research always been international?
Yes, science is global, it’s an international activity. There has always been the exchange of ideas between people working in science, and these shared ideas spark new innovations and understanding. Science is about trying to progress knowledge. Increasingly, pooling resources allows us to solve problems that we couldn’t tackle alone.
Why collaborate on an international scale?
Firstly, health and diseases don’t recognise borders. Pandemic infections, for example, can only be tackled by taking a global approach. For many diseases it is also essential that research is conducted in those countries where the disease is prevalent. Secondly, many clinical studies may need large cohorts of patients; in particular when the disease is rare, research cannot be conducted in one country alone. Additionally, international collaboration can give researchers the chance to work in a different political, regulatory or intellectual environment where different approaches have been made to problem solving. Exposure to a different way of thinking, and seeing how other people work, can be hugely beneficial to progressing research in our own country. Read more
(Image credit: Flickr/jfcherry)
There has been a lot of discussion lately about the huge benefits that could come from research using patient data, but what does that actually mean? How is the data used, and what’s in it for the patients? We asked Dr Janet Valentine, Head of Public Health and Ageing at the MRC.
What is research using patient data?
You might have heard it described as e-health, big data, health informatics or health record linkage. They all mean more or less the same thing: research using the information held in NHS health records captured every time we visit a doctor or go to hospital. By using these health records, researchers can help identify more effective treatments, monitor drug safety, assess services provided in the NHS and better understand the causes of diseases.
What types of patient data are used?
GP data, such as routine vaccinations, lifestyle information, and the types of illnesses we have had; hospital stays or A&E visits; prenatal data; information on issued prescriptions; results of scans and screens; and registries of diseases like cancer and heart disease. Read more