Dr Frances Williams
Dr Frances Williams is a senior research fellow at St Thomas’ Hospital in London.
What does your work involve?
I'm trying to understand the common problem of back pain by approaching it through the genetics of degenerative disc disease (DDD). DDD is a very common, age-related condition which has a strong influence on back pain. Back pain, as highlighted in issue 138 of Arthritis Today, is a major cause of disability in those of working age and it's increasing in prevalence in Western countries. We're studying healthy volunteer twins who underwent spine MRI scanning as part of previous studies some 10 or so years ago. The previous study showed that DDD is highly heritable so now the search for the genetic factors involved is taking shape. In addition, we're rescanning this same group of twin volunteers to look at the biology of progression of DDD and to see if this relates to the length of telomeres, structures at the ends of chromosomes.
How long has Arthritis Research UK been funding you?
This project has been funded by Arthritis Research UK for approximately 18 months, but the work builds extensively on previous studies which were also, in part, Arthritis Research UK-funded.
What’s the most important thing you've found out in the past 12 months? Why?
I've learnt a lot about the administration of a large and complicated clinical project. Twins come to visit us at St Thomas’ from all round the UK and, in a packed and complicated day of tests, they travel round London to various sites for scans, x-rays and blood tests. We have fantastic people working at the Twin Research Unit and I rely heavily on various teams to pull together and arrange these timetables.
On the research front, we've just identified a novel genetic variant which appears to be associated with DDD, back pain and bone mineral density. I can't name it until we've done more work on it, but it's a very exciting find!
What do you hope or expect to achieve as a result of your Arthritis Research UK funding?
The ultimate aim is to identify changes in the DNA code which predispose to DDD. The pathological processes involved in DDD are poorly understood. By coming at the problem from a genetic angle, I hope to identify the important genes and hence the cellular pathways involved. This could lead to the development of new drugs and prognostic tests based on the knowledge of the cellular pathways.
What do you do in a typical day?
It's a cliché but there is no typical day! Yesterday, for example, I held the monthly rheumatology clinic for musicians at St Thomas', which is very enjoyable because I meet such interesting people. (This is a specialist clinic specifically for the musculoskeletal problems of musicians – any musician can attend if their GP refers them). I attended journal club in the Twin Unit, at which the researchers discuss a recent research paper of interest and consider how it might inform our work. Then I worked on the spine MRI scans and x-rays we've collected from the twins. They need coding for degenerative change. This is difficult work; I'm not used to squinting at films for hours and it gives me backache!
What's your greatest research achievement?
If the novel genetic variant we've identified in DDD turns out to be a real finding, it'll undoubtedly be my greatest contribution so far.
Why did you choose to do this work?
Back pain is one of the most important musculoskeletal conditions but it hasn't had research funding to match, for example, cancer or Alzheimer’s disease. This means that our understanding of DDD is very poor and we have a lot of catching up to do. Current management involves painkillers and exercises for back and abdominal muscles. If we can make scientific findings which improve on this, then this will be time and money well spent.
Do you ever think about how your work can help people with arthritis?
I think it's important to direct efforts where improvements will help the most people – particularly if you're funded by public money. It's a major long-term goal to identify cellular pathways which could be targeted with more specific drugs than simple painkillers.
What would you do if you weren’t a clinician/scientist?
I can’t imagine. It's what I always wanted to do. I'm extremely lucky to have such a varied and fascinating job.
I'm married with three young children so my activities tend to fit around them. I like music and go to concerts and opera. I also enjoy jogging, fishing and skiing.
This article first appeared in Arthritis Today Summer 2008, issue 141.