My research focuses on Huntington’s disease, a fatal, autosomal dominantly inherited neurodegenerative disease that usually begins in mid-adult life and produces cognitive, behavioural and movement problems.
No cure or disease-slowing treatment exists for HD but, uniquely among common neurodegenerative diseases, Huntington’s disease (HD) is caused by a single known genetic mutation. This has enabled the development of many promising therapeutic options designed to target known pathogenic pathways in HD.
HD-CSF is a new study in the advanced planning stages. Funded by the Medical Research Council (MRC), HD-CSF exists to study cerebrospinal fluid (CSF) from Huntington’s disease patients and controls using state of the art techniques. To find out more, visit the HD-CSF page at the UCL Huntington’s Disease Research Group.
HDClarity is a new multi-site initiative to collect and study cerebrospinal fluid (CSF) as a means of understanding the brain and developing drugs to treat HD. It’s funded by CHDI Foundation Inc. Visit hdclarity.net for more info.
My research aims to develop meaningful biomarkers to facilitate and empower clinical trials of new therapeutic agents. A biomarker is anything we can measure that tells us something about a disease or whether a drug is working.
I am particularly interested in the study of cerebrospinal fluid (CSF) for the purpose of understanding the pathobiology of HD. CSF is a clear fluid, produced by the brain, that surrounds, nourishes and protects the nervous system. It can be collected through a minor procedure called a lumbar puncture or ‘spinal tap’.
My biomarker research won the 2009 Queen Square Prize in Neurology and the 2013 prize for the best research presented at the CHDI Foundation HD Therapeutics Conference.
I am establishing a programme of CSF collection, and using new techniques to study it and develop new ways of understanding Huntington’s disease and helping to develop exciting new treatments. I am also developing novel magnetic resonance imaging techniques to study the production and movement of CSF in HD.
My lumbar punctures
In 2013 and 2014, I volunteered for two lumbar punctures to raise awareness of the need for CSF collection, to find out what it feels like and to donate CSF for research. You can read all about it here.
My Clinician Scientist post and CSF research is supported by the Medical Research Council. I receive research support from the European Huntington’s Disease Network, Academy of Medical Sciences, CHDI Foundation and EU FP7 Project.
Holding my own cerebrospinal fluid shortly after my lumbar puncture in August 2013.