Research

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.

HDClarity

HDClarity-logo-for-light-background-800

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.

Clinical trials

I have been centrally involved in the design and execution of numerous clinical trial programs, including the first antisense oligonucleotide huntingtin-lowering trial (tominersen), and others targeting upstream mechanisms in Huntington’s disease.

HD-CSF

hdcsf-logo-for-light-background-300Funded by the Medical Research Council (MRC), HD-CSF ran from 2015 to 2019 and generated the largest cohort of longitudinal CSF samples from well-phenotyped HD mutation carriers and matched controls. HD-CSF led to multiple peer-reviewed publications and laid the foundation for HDClarity.

Biomarkers

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, the 2013 prize for the best research presented at the CHDI Foundation HD Therapeutics Conference, the 2014 HDSA Researcher of the Year award, the 2015 Huntington Society of Canada community leadership award and the 2016 and 2017 Huntington Study Group Insight of the Year awards.

Ed holds a tube of his own CSF

Holding my own cerebrospinal fluid shortly after my lumbar puncture in August 2013.