Huntington’s is a devastating disease, caused by a faulty gene which stops the brain working properly, affecting mobility, learning, thinking and emotions. Symptoms get worse over time and currently there is no cure. It’s an inherited condition and has around a 50% chance of being passed down from a parent. We spoke to researcher Anne Rosser, Professor of Clinical Neuroscience, Division of Psychological Medicine and Clinical Neurosciences at Cardiff University.
Tell us a bit about your research?
My research is focussed on finding treatments for the neurodegenerative condition, Huntington’s disease. We are interested in Huntington’s because it represents an area of great clinical need, but it is also recognised as a good model for other neurodegenerative diseases, which means that findings may be transferable.
Huntington’s is a neurodegenerative condition in which there is slow but inexorable loss of nerve cells from a particular part of the brain called the striatum. Because the striatum is connected to widespread areas of brain, damage to it results in a wide range of symptoms including deterioration of movement, difficulty thinking and behavioural disturbance.
The condition usually starts in mid-life and progresses over a period of approximately 20 years until sufferers have dramatically reduced mobility and require help with most or all activities of daily living. One of the particularly painful aspects of Huntington’s is the personality change and psychiatric symptoms that can impact, even early in the disease, on an individual’s ability to work and to maintain relationships. Another sad aspect is that someone with Huntington’s will pass the condition on to approximately half of their children, so it is a condition that has a substantial impact on a family.
As a clinical scientist, I work across both the lab and clinic and have worked on many aspects of Huntington’s disease, ranging from research into the fundamental aspects of the behavioural abnormalities in Huntington’s and attempting to understand more about what goes wrong in the brain, to both lab and clinical research aimed at testing potential new treatments.
One thread that has run through the work over the last 25 years is that of cell therapy. In cell therapy we use various cell products (many of them are derived from stem cells) to try to repair a damaged organ. This is important in neuroscience as the brain has a very limited ability to mend itself.
If cells are administered into the blood stream by injection, very few will reach the brain, so we need to deliver them directly by carrying out a neurosurgical operation. We have been developing these sorts of therapies over many years in the lab, trying to understand the biology underlying successful transplants so that we can optimise the procedures.
We are now at the stage of doing early clinical trials in patients. As this is highly experimental work, we need to proceed cautiously, so these trials involve small numbers of patients to check that the procedures are safe. The trials are extremely complex so we started work on this a couple of years ago and are hoping to complete the current study over the next year or two.
What is your hope for your research and how it might benefit patients with Huntington’s Disease now and in the future?
Many treatments for neurodegenerative diseases such as Huntington’s are aimed at slowing the progress of the condition. Slowing the disease process is very important, but it won’t restore cells that have already been lost to the disease.
Cell therapy offers the prospect of replacing the nerve cells that have degenerated with new cells that can take over their function. Cell therapies should be compatible with most of the disease-modifying treatments that are in development for Huntington’s. We hope that this will lead to a way to improve the quality of life for people with Huntington’s disease.
This work is complex and has required collaboration with other scientists in my lab (The Cardiff Brain Repair Group) and other groups both in and outside the UK and with a variety of other researchers, in particular our local professor of Neurosurgery and the head of the neuroscience section of the Centre for Trial Research.
What inspired or interested you in this particular field of research?
I have always been interested in how the brain works and this was a major driver in applying to study medicine. I was then inspired by many great neuroscientists during my studies at Cambridge University. While I was a medical student I attended a lecture by Steve Dunnett on neural transplants for brain diseases, which really excited me and several years later I was fortunate to work with Steve.
What inspired you come to work at Cardiff?
There were several things that came together to inspire me to seek a move to Cardiff. It was clear towards the end of the 90s that Cardiff was acquiring critical mass developing into a centre of excellence for neuroscience and psychiatric genetics. In addition, Martin Evans, a stem cell expert (who was subsequently awarded a Nobel prize for this work) moved from Cambridge to Cardiff University. My collaborator Steve Dunnett also moved his lab to Cardiff in 1999, which was another attraction – I ended up collaborating closely with Steve until his retirement in 2017. Finally (but critically!) my husband was also offered a post as a Senior Lecturer in Cardiff University School of Bioscience.
What are you favourite things about Cardiff?
I’ve mentioned the attractions of the University, but I have also grown to love the city of Cardiff too. I love the combination of culture, heritage, and friendly locals, and the fact that it takes very little time to reach hills or the coast.
What do you enjoy doing in your spare time?
My favourite activity is spending time with my three daughters – now all adults. We enjoy walking, skiing and generally spending time together. I’m also passionate about growing vegetables, painting and enjoy music – I’m a particularly keen attender of Welsh National Opera (but clearly not right now….)