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3 HD Insights, Vol. 12 Copyright © Huntington Study Group 2015. All rights reserved. H D I N S I G H T S VITAL SIGNS NAME: Helen Budworth, DPhil EDUCATION: BS, Genetics and Microbiology, University of Liverpool, Liverpool, England; DPhil in Biochemistry, Wolfson College, University of Oxford, Oxford, England; post-doctoral research at the Lawrence Berkeley National Laboratory, Berkeley, CA CURRENT POSITION: Biochemist Research Scientist, Lawrence Berkeley National Laboratory HOBBIES: Surfing and enjoying the beautiful beaches of California RESEARCH INTERESTS: Dr. Budworth has devoted her career to studying mechanisms of DNA repair in human disease and exposure to harmful agents. She joined Dr. Cynthia McMurray's lab in 2011, applying her knowledge of DNA repair mechanisms to the study of HD. In 2013, Dr. Budworth was awarded an HDSA HD Human Biology Award to study transcriptomic and metabolomic biomarkers of HD progression in humans. Her work has led to a collaboration with Dr. Christopher Ross at Johns Hopkins University, in which blood samples from individuals with HD and control patients are analyzed for their transcript and metabolite patterns. They then correlate the metabolite profiles of plasma from patients with the gene expression differences observed in genes that control metabolic processing. The work holds promise for producing robust biomarkers of HD progression. HOPES FOR THE FUTURE: Dr. Budworth told HD Insights, "We are on the cusp of breakthroughs for much more effective treatments for HD. Gene therapy, and the evolution of more gene editing tools, will hopefully be of great benefit to HD patients, in whom the monallelic single gene mutation is a very good target for gene therapy. Our lab has identified the role of somatic expansion in the onset of disease, that is, further expansion of the polyglutamine repeat in patients, in addition to what they inherit. This opens the door for new therapeutic options − by slowing down or blocking somatic expansion, we can delay the onset of disease. This is a very exciting avenue for therapeutics." PUBLICATION HIGHLIGHT: Budworth H, Harris FR, Williams P, et al. Suppression of somatic expansion delays the onset of pathophysiology in a mouse model of Huntington's disease. PLoS Genet. 2015 Aug 6;11(8):e1005267. doi: 10.1371/journal.pgen. 1005267. eCollection 2015. Dr. Helen Budworth HD Human Biology Project Fellow (continued on Page 4...) VITAL SIGNS NAME: George McNally, BMedSci EDUCATION: BMedSci, Psychological Medicine, University of Birmingham, Birmingham, England CURRENT POSITION: Final-year medical student, University of Birmingham HOBBIES: Playing sports, including field hockey, skiing, golf, and tennis RESEARCH INTERESTS: Mr. McNally became interested in neuropsychiatric rating scales used in HD through his research mentor, Dr. Hugh Rickards. His work has focused on exploring the validity of the Problem Behaviors Assessment (PBA), developed by Dr. David Craufurd, using novel analytical methods. His research has led to a collaboration with Dr. Craufurd to further develop seven apathy items into a potential PBA subscale. This is Mr. McNally's first foray into research, and he plans to continue his work in HD research when he finishes his medical training and moves into clinical practice. HOPES FOR THE FUTURE: Mr. McNally hopes that efforts to modernize and refine rating scales and other assessment tools will help improve the detection of important symptom changes in HD clinical trials, and especially inform trials of novel disease-modifying therapies. George McNally Shoulson Scholar Meet the Next Generation, cont... H D I N S I G H T S T M T H A N K S L U N D B E C K F O R I T S O N G O I N G S U P P O R T