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HD INSIGHTS TM Meet the Investigator VITAL SIGNS NAME: Sarah Tabrizi CURRENT POSITION: Professor of Clinical Neurology at University College London EDUCATION: PhD Biochemistry University College London MBChB University of Edinburgh CURRENT HD ACTIVITIES: Dr. Tabrizi is leading efforts in translational medicine. She is lead investigator of the TRACK-HD study that investigates the neurobiology of premanifest and early onset HD and has already been successful in identifying biomarkers that can be used to track the progression of neurodegeneration from its onset in HD patients. She is also researching immunobiology in HD, and cellular mechanisms of protein misfolding diseases. HOBBIES: Spending time with family, reading, and running. LAST BOOK READ: Herzog by Saul Bellow. It was great but heavy going! Sarah Tabrizi, MBChB, PhD Dr. Tabrizi established her own consulting clinic and specialist HD clinic in 2003. Since then, she has published more than 120 peer-reviewed articles, which have appeared in Molecular Cell, Lancet Neurology, Nature Communications, Journal of Experimental Medicine, EMBO Journal and PNAS. In addition to her ongoing projects in HD immunobiology, protein misfolding, and the TRACK-HD study, she serves on executive panels for the UK HD association, the European HD Network and NINDS. Dr. Tabrizi sat down with HD InsightsTM at the World Congress on Huntington's Disease to discuss her HD research and hopes for the future of HD. Excerpts from the discussion are below. INSIGHTS: What drew you to Huntington disease? TABRIZI: My PhD supervisor Tony Schapira took me to a nursing home just outside London called Stagenhoe, where there were many patients with advanced Huntington disease. I was struck by the patients and how warm they were, how interested they were in the research. Then I met Gill Bates who had just published about her HD mouse. I followed up with the work Gill had done and also worked with her during my PhD. My PhD work cemented my interest in the disease. Once you start working in Huntington disease you get hooked. INSIGHTS: You presented that a number of different biological markers that you're helping develop track with HD. Can you tell us which of these biomarkers you view as the most promising? TABRIZI: The markers that I've been most impressed with are the structural imaging markers – caudate volume, striatal volume, and whole brain atrophy. These are the markers that I think are the most promising and the most robust at this stage. However, a number of cognitive and quantitative motor markers are also important. We are developing these markers with our TRACK-HD team. The interesting part about the imaging is that we need to understand more about what these structural changes mean biologically. We need to understand what the pathological substrate is and the functional relevance of these imaging changes. That's something through our ongoing work we're seeking to do – to look at neural compensatory networks and functional plasticity. INSIGHTS: You talked a little bit about your initial skepticism of structural imaging and how that's been converted. HD InsightsTM, Vol. 1 Copyright © Huntington Study Group 2011. All rights reserved. 5