HD Insights™

Vol. 12 - Fall 2015

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2 HD Insights, Vol. 12 VITAL SIGNS NAME: Kelly L. Andrzejewski, DO, PhD EDUCATION: BS, Biology, Canisius College, Buffalo, NY; DO, Michigan State University College of Osteopathic Medicine, East Lansing, MI; PhD, Michigan State University, East Lansing, MI CURRENT POSITION: Experimental Therapeutics in Movement Disorders Fellow, University of Rochester Medical Center, Rochester, NY HOBBIES: Spending time with family and friends (continued on Page 3...) Copyright © Huntington Study Group 2015. All rights reserved. H D I N S I G H T S RESEARCH INTERESTS: Dr. Andrzejewski conducted her PhD research on a mouse model of Parkinson disease, which sparked her interest in pursuing training as a movement disorders specialist. She completed her neurology residency at University Hospitals Case Medical Center in Cleveland, OH, and then joined the Experimental Therapeutics fellowship program at the University of Rochester. Her clinical experience with HD patients during her fellowship led her to focus her research on assessing the feasibility of measuring HD motor symptoms using wearable sensors and smartphone technologies. After completing her movement disorders fellowship in June 2016, she plans to practice as a movement disorders specialist and HD clinical trial investigator. She is also interested in further investigating the role of the cannabinoid system in HD pathophysiology and exploring other potential therapies for HD. HOPES FOR THE FUTURE: Dr. Andrzejewski hopes that the next ten years will bring new treatments to slow or halt the progression of HD. She told HD Insights, "We all know that research takes a long time, and that we need groups of investigators such as those that make up the Huntington Study Group to help develop new treatments for HD." PUBLICATION HIGHLIGHT: Andrzejewski K, Gwin J, Harris DA et al. Sensor-based remote measurement of the motor symptoms of Huntington's disease. [abstract] To be presented during the Ninth Annual Huntington Disease Clinical Research Symposium, October 24, 2015, Tampa, FL. Dr. Kelly Andrzejewski Shoulson Scholar Meet the Next Generation, cont... VITAL SIGNS NAME: Nancy R. Downing, PhD, RN, SANE-A EDUCATION: BSN, RN, and PhD, College of Nursing, University of Iowa, Iowa City, IA; post- doctoral research with Janet Williams, PhD, RN, FAAN, and Jane Paulsen, PhD CURRENT POSITION: Assistant Professor, College of Nursing, Carver College of Medicine Department of Psychiatry, University of Iowa HOBBIES: Bicycling, including the 15,000-person RAGBRAI Ride across Iowa RESEARCH INTERESTS: Dr. Downing's research focuses on improving quality of life and caregiver experiences for individuals with HD, those at-risk for HD, and their families. She describes these measures as "palliative," emphasizing that despite the tendency to conflate this with end-of-life care, these measures are aimed at improving quality of life and functioning throughout the disease course. She is currently developing patient-reported outcome measures that can better measure quality of life for HD patients and their caregivers, as well as investigating the ways in which HD gene carriers and their families conceptualize and cope with the gradual loss of function in HD. Through her work identifying lifestyle-based interventions, Dr. Downing hopes to elucidate low-risk ways for individuals at risk for HD, and those living with the disease, to improve their functioning. As a geneticist, she is interested in the effects of these interventions on epigenetic modifications that may affect HD progression. HOPES FOR THE FUTURE: Dr. Downing hopes that the next ten years will bring the development of gene-based therapeutics that can modify disease course. She hopes that lifestyle-based adjuvants to biological therapies identified through large-scale studies, such as diet changes, physical exercise, and mental exercises, will become mainstream and help to improve patients' and families' quality of life. PUBLICATION HIGHLIGHT: Downing NR, Kim JI, Williams JK, et al. WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease. Eur J Hum Genet. 2014 Aug;22(8):958-63. Dr. Nancy Downing Shoulson Scholar

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