Sarah J Tabrizi BSc (Hons) MBChB (Hons) FRCP PhD
Professor of Clinical Neurology
For details of Prof Tabrizi’s research, please click here
This site aims to bring together information about our research projects in Huntington’s disease (HD) for patients, carriers of the HD gene, carers, families, friends, scientists and health professionals.
Clinical research in Huntington’s disease is entering a new era. We are already running clinical trials into treatments that may slow down progression of the disease. There are many new treatments that have been shown to be effective in animal models of HD and are waiting to be tested in humans.
Through the Huntington’s Disease Multidisciplinary Clinic of the National Hospital for Neurology and Neurosurgery, we are already running a number of studies to determine the best measures of disease progression and expect to be in the front line when human treatment trials begin in earnest.
To navigate the site, choose one of the links on the left.
Dr Ed Wild, Clinical Lecturer in Neurology in the UCL Huntington’s Disease Research Group, is planning a new study called HD-CSF, and would like to hear your thoughts on the proposal.
HD-CSF will focus on collecting cerebrospinal fluid (CSF) from people with Huntington’s disease. The CSF will be analysed to see whether we can measure levels of the mutant huntingtin protein that causes HD, and also measure the balance of protective and harmful chemicals produced by the brain’s immune cells.
These measurements are important for testing drugs currently being developed for HD and will hopefully speed up the start of clinical trials of new treatments including ‘gene silencing‘ and KMO inhibition.
CSF is collected by lumbar puncture, also known as a ‘spinal tap’, a minor procedure where a needle is used to withdraw about 4 teaspoonfuls of fluid from the base of the spine. It takes about 15 minutes and is done under local anaesthetic.
If you’d like to hear more about the proposal, and offer your thoughts on the design of the study, please get in touch.
On Thursday 20th June at 6:45pm there will be another chance to see the award-winning Huntington’s disease documentary Do You Really Want to Know, from Academy Award winning director John Zaritsky.
The film will be screened on the opening night of UCL’s Open City Documentary Festival, followed by a panel discussion featuring experts including UCL’s Prof Sarah Tabrizi – head of the UCL HD research group – and Dr Jeff Carroll, the HD researcher and mutation carrier featured in the film.
The film follows three families who have been confronted with the decision of whether or not to be tested for Huntington’s Disease (HD) – an inherited degenerative neurological illness that strikes in adult life.
Through three emotional, inspiring and surprising stories, viewers will learn how different people have faced the decision, and how they responded to their results – either hearing the worst news imaginable, or the best news of their life.
‘Do You Really Want to Know?’ won two Golden Sheaf Awards: Best Documentary (Science/Medicine/Technology) and Best Director (Non-Fiction) at the 2012 Yorkton Film Festival; a Chris Award for Best Science & Technology Documentary at the 2012 Columbus International Film & Video Festival; and Best Documentary the 2012 Okanagan International Film Festival.
The screening is endorsed by the UCL / UCLH Biomedical Research Centre.
The results and analysis of the 3-year followup data from the TRACK-HD study, led by Prof Sarah Tabrizi at UCL Institute of Neurology, have been published in top scientific journal Lancet Neurology – the fourth TRACK-HD publication in as many years to be featured in the journal.
In the article, Prof Tabrizi’s team report a set of robust tests that could help predict the onset of Huntington’s disease (HD) and whether the disease is progressing in groups of people who are not yet showing symptoms.
The battery of tests could be used to assess whether new treatments are slowing the disease, up to 10 years before the development of noticeable symptoms.
“These new tests could be used in future preventative drug trials in individuals who are gene-positive for HD but are not yet showing overt motor symptoms. These people have the most to gain by initiating treatment early to delay the start of these overt symptoms and give them a high quality of life for a longer period of time”, explains Prof Tabrizi.
“A new generation of drugs will be ready for human trials in the very near future. This study now gives us a number well-defined parameters that correlate with disease progression. By extending the reachof clinical trials to include individuals who are currently free of overt symptoms, there is a realistic future possibility that treatments in the pipeline can significantly improve the quality of life for patients and families.”
In an accompanying comment piece, Dr Francis Walker of Wake Forest Medical School, USA, praised the hard work of the TRACK-HD team and the volunteers who took part in the study: “The TRACK-HD team should be praised for this bold article. It takes substantial effort, teamwork, and genius to turn virtual roadmaps into rigorous, quantifiable timelines that can be used to test efficacy in future therapeutic trials.”
In January this year Professor Tabrizi and Dr Hensman attended the launch meeting for Neuromics, in Bareclona. Neuromics is a multi-million pound European Union funded project to investigate rare neurological diseases including Huntington’s disease.
The conference saw scientists, clinicians, patient representatives and policymakers from across Europe come together to discuss how research and next-generation technologies can improve diagnosis and develop new therapies for patients with rare diseases. The Neuromics projects will help ensure tangible benefits for patients by improving diagnosis rates and putting new potential therapies into the drug development pipeline.
On Friday 1st February the Huntington’s Disease Research Team [of UCL’s Institute of Neurology] welcomed 200 people to Queen Square for the UK premiere of
a new documentary about HD called “Do You Really Want to Know?” by Oscar winning director Jason Zaritsky in support of the Huntington’s Disease Association.
Clinical Lecturer Dr Ed Wild organised the premiere, which completely sold out and raised almost £2000 on behalf of the HDA (http://hda.org.uk). The audience was very diverse with clinicians, scientists, students, HD patients, family members and the public. It was wonderful to see so many people raising funds and awareness for Huntington’s disease.