Meet the Next Generation
The global HD research community continues to grow and welcome a new, diverse generation of investigators. As we did in 2015, HD Insights interviewed next-generation HD researchers who have been invited by the HSG to attend the 2016 HSG Annual Meeting. We bring you their backgrounds, their current work, and their vision for the future of HD research.
Name: Nora Fritz, PhD, PT, DPT, NCS
• BS, Zoology, Miami University, Oxford, OH
• DPT, Physical Therapy, The Ohio State University, Columbus, OH
• PhD, Rehabilitation Science, The Ohio State University, Columbus, OH
• Postdoctoral Fellowship, Johns Hopkins University, Baltimore, MD
Current position: Assistant Professor of Physical Therapy and Neurology, Wayne State University, Detroit, MI
Hobbies and interests: Traveling and gardening
Current research interests: Dr. Fritz began working with individuals with HD during her doctoral work, as both a consulting physical therapist in the HD clinic, and during research studies, including a clinical trial that examined the influence of a video game on balance, and a multi-center trial that examined the reliability of physical performance measures. Since completing her PhD, Dr. Fritz has maintained a strong working relationship with the European Huntington’s Disease Network. Dr. Fritz joined the Physical Therapy & Neurology faculty at Wayne State University in 2015.
She serves as the principal physical therapist for the Wayne State University HD Clinic, and directs the Neuroimaging and Neurorehabilitation Laboratory. The overarching research goal of the laboratory is to develop novel rehabilitation strategies that target motor and cognitive decline in individuals with neurodegenerative diseases such as HD. Dr. Fritz’s lab is currently examining motor and cognitive performance over time to establish patterns of change, and biomarkers that might indicate future impairment.
Hopes for the future of HD research: Dr. Fritz hopes that clinical trials that examine non-pharmacologic interventions will improve the function and quality of life of individuals with HD, their care-givers, and families.
Publication highlight: Fritz NE, Hamana K, Kelson M, et al. Motor-cognitive dual-task deficits in individuals with early-mid stage Huntington disease. Gait Posture. 2016 Jul 17;49:283-289. doi: 10.1016/j.gaitpost.2016.07.014. [Epub ahead of print]
Name: Martin Kronenbuerger, MD
• MD, University of Heidelberg Medical School, Heidelberg, Germany
• Residency in Neurology, RWTH Aachen University Medical School, Aachen, Germany; Privatdozent (German academic title comparable to PhD)
• Medical Faculty RWTH Aachen University, Aachen, Germany
Current position: Movement Disorders Fellow, Parkinson and Movement Disorders Center, Johns Hopkins University School of Medicine
Hobbies and interests: Outdoor activities with family, including hiking and mountain camping
Current research interests: Dr. Kronenbuerger worked as an attending neurologist at academic centers in Germany and the Netherlands, until his interest in movement disorders led him to join the Movement Disorders team at Johns Hopkins Hospital as a fellow. During a rotation with Dr. Christopher Ross at the Johns Hopkins HD center, Dr. Kronenbuerger began working with HD patients and became involved in HD research. He and his colleagues are currently investigating MRI changes in premanifest and manifest HD, hoping to develop a sensitive marker of disease progression that can be used in future clinical trials of disease-modifying therapies. They are beginning a one-year follow-up study with their original cohort to assess MRI changes and evaluate their model.
Hopes for the future of HD research: “We are on a good path,” Dr. Kronenbuerger said, “because medications such as laquinimod that have been shown to be effective for other neurological diseases are now being evaluated in HD.” He is hopeful that MRI markers for disease progression will finally enable the trials necessary to develop disease-modifying treatments.
Publication highlight: Kronenbuerger M, Hua J, Unschuld P et al. Cortico-striatal functional connectivity in premanifest and manifest Huntingon’s disease measured with high-field functional MRI. [abstract]. To be presented during the Tenth Annual Huntington Disease Research Symposium, November 3rd, 2016, Nashville, TN.
HDSA Human Biology Fellow
Name: Regina Kim, PhD
• PhD, Large-scale MRI processing/Biomedical Engineering, University of Iowa, Iowa City, IA
Current position: Research Scientist, University of Iowa, Iowa City, IA; Research Professor, Korea University, Ansan, Korea
Hobbies and interests: Rock-climbing and other exercise
Current research interests: Dr. Regina Kim became involved in HD research when she came to the University of Iowa to earn her PhD in Biomedical Engineering, with a focus on large-scale MRI processing. With the help of Dr. Hans Johnson, Dr. Kim began her research on the large dataset generated by the PREDICT-HD study. Her work focuses on analysis of large-scale biological datasets, with a particular focus on imaging analysis. She is just finishing her HDSA-funded project analyzing volumetric MRI data from the PREDICT-HD study, hoping to use the super-computing power of the University of Iowa’s high-performance computing resources (see HD Insights, Vol. 7) to identify changes in the brains of HD patients. Her work aims to not only confirm and further characterize the changes in volume already observed in the caudate and putamen, but also to identify volumetric changes in approximately 125 additional regions of the brain, to better characterize the progression of HD in the premanifest and prodromal periods. Her team seeks to identify a spectrum of changes within the brain which can not only provide a biological signature of HD progression, but which may also give insights into the symptomatology of the disease.
She hopes that these imaging markers may be combined with biological markers and other imaging modalities to provide a sensitive, objective assessment system for future HD trials.
Hopes for the future of HD research: “It was 10 years ago that I started [doing research in HD], and people were saying that ‘there is no cure for HD, and we’re still just trying to understand the process.’” Now, we’re working on clinical trials, she says. She “won’t say for sure,” but hopes to see a disease modifying treatment on the market within the next ten years.
Publication highlight: Kim EY, Lourens S, Long JD, Paulsen JS, Johnson HJ. Preliminary Analysis Using Multi-atlas Labeling Algorithms for Tracing Longitudinal Change. Front. Neurosci. 2015, 9(242). doi: 10.3389/fnins.2015.00242. eCollection 2015.
HDSA Human Biology Fellow
Name: Dawn Loh, PhD
• BSc, Genetics, University of Edinburgh, Edinburgh, UK
• PhD in molecular genetics, MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK
Current position: Project Scientist with the Department of Psychiatry and Biobehavioral Sciences at the University of California Los Angeles, CA
Hobbies and interests: Camping and hiking with her family in the outdoors of California
Current research interests: Dr. Loh began her studies by completing an undergraduate degree in genetics. The HD gene was discovered during her studies, which catalyzed her interest in the disease. She completed her PhD in Edinburgh, then took a post-doctoral position at UCLA with a mentor who focused on sleep-wake timing and the biology of circadian “clocks.” Their work in mouse models of neurodegenerative disease included explorations of sleep-wake dysregulation in HD mouse models that express varying CAG repeat lengths.
After six years exploring the striking neurological basis of these disruptions in mice, Dr. Loh is currently investigating sleep disruption in human HD patients through her HDSA Human Biology fellowship. Her project utilizes an at-home activity monitor used throughout sleep research that enables comparison of the sleep-wake patterns of HD patients and age-matched controls. She is primarily interested in identifying sleep-wake cycle disruption in HD patients, and understanding the biology of this disruption. She hopes that future research might determine whether sleep hygiene education or other methods of improving sleep quality might improve sleep in HD patients, and perhaps even slow the progression of the pathology.
Hopes for the future of HD research: Dr. Loh is excited about the move toward nucleotide-based therapies, and hopes that they will be a game changer. In the absence of an effective disease-modifying treatment, she hopes to see more research into the peripheral effects of HD, and more integration of whole-body outcome research.
Publication highlight: Loh DH, Jami SA, Flores RE, et al. Misaligned feeding impairs memories. Elife. 2015 Dec 10;4. pii: e09460. doi: 10.7554/eLife.09460.
HDSA Human Biology Fellow
Name: Sonia Podvin, PhD
• BA, Biochemistry, Wellesley College, Wellesley, MA
• PhD, Pharmacology and Experimental Therapeutics, Boston University School of Medicine, Boston, MA
Current position: Assistant Project Scientist, Laboratory of Dr. Vivian Hook, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego, CA
Hobbies and interests: Open-ocean swimming; karate
Current research interests: Dr. Podvin has dedicated her career to studying mechanisms of neurodegeneration. Her current work in HD focuses on identifying and characterizing proteins and peptides that interact with HTT in human brain tissues obtained from HD brain banks, and evaluating differences in these interactions between human tissue and available animal models using bioinformatics and systems biology. Understanding the protein molecular interactions that go awry in HD will point to potential therapeutic target testing for discoveries into novel therapies for HD patients.
While acquiring and analyzing proteomics mass spectrometry data from human HD brain tissues, Dr. Podvin is also working on a manuscript that evaluates a curated list of all available published HTT interactors in the field from animal and cellular HD models that she has collated, to utilize as a reference dataset. Analyzing the HTT interactors in animal and cellular models versus those in human tissues can facilitate understanding of similarities and differences between non-human HD model systems and humans, for use in future preclinical testing platforms. Her lab plans to manipulate the interactor proteins they have discovered in human patient-derived stem cell models to evaluate them as potential therapeutic targets.
Reflecting on her experiences at this year’s HDSA meeting, Dr. Podvin said that she was moved by how HD patients and families handled the development of this disease with so much courage, grace, and strength. Hearing from patients, their families, and their advocates gave her a new appreciation of the urgency with which treatments are needed. She is excited to be attending the HSG meeting to discuss the ways in which veteran HD researchers and clinicians use neuroscience in their clinics to improve care for their HD patients, and how she can incorporate their invaluable knowledge-base to plan future research strategies.
Hopes for the future of HD research: Through her work, Dr. Podvin hopes to contribute to the growing body of publicly available data on the biology of HD to speed the search for new treatments. She also hopes to better characterize differences between HD biology in humans and HD animal models to improve translation of novel therapies.
Scholars invited to HSG 2016:
2016 Shoulson Scholars
Nora Fritz, PhD, PT, DPT, NCS
Martin Kronenbuerger, MD
HDSA Human Biology Fellows
Regina Kim, PhD
Dawn Loh, PhD
Sonia Podvin, PhD