Paul Dennis, MFA

Professor, Hunter College, CUNY, Mentor: Ashwini K. Rao Ed.D, OTR, FAOTA

Movement Intervention for Neurodegenerative Disease (MIND): Dance for Huntington’s Disease (DfHD)

While regular exercise is often recommended for people with Huntington’s Disease (HD), there are no rigorous clinical studies examining the use of dance as an intervention to improve daily functioning and quality of life of those living with HD. Using the framework of the Laban/Bartenieff Movement System, Dr. Dennis has partnered with a team of HD-experienced physical therapy and neurology specialists to assess safety as well as cognitive and movement benefits of a weekly dance program for people with HD.

 

Lea Danics, PhD

Postdoc, Semmelweis University, Mentor: Karolina Pircs, PhD

Identification of novel targets with therapeutic potential in HD using a patient-derived induced neuronal model

This project will explore the use of a novel model system in which human skin cells donated by people with HD can be directly converted in a dish into brain cells, retaining properties of the donors in a way that better reflects the adult onset of HD. This process will enable Dr. Danics to investigate new therapeutic targets within the biological pathways that control the breakdown of toxic huntingtin, which could be applied to drug development. To date, this has been difficult to achieve in systems that don’t accurately reflect human aging.

 

Ines Bras, PhD

Postdoctoral Scholar, University of Central Florida, Mentor: Amber Southwell, PhD

Extracellular vesicles as non-invasive biomarkers for Huntington disease progression and huntingtin lowering therapy

This project focuses on the development of a novel biomarker, measured in human blood. If successful, it will represent a new and less invasive way to track HD progression and the effectiveness of huntingtin-lowering therapies over the duration of a clinical trial. Dr. Bras has shown that huntingtin protein can be found in extracellular vesicles, small sacs that are shed from brain cells. Over the course of this project, she will refine techniques for detecting these vesicles in blood donated by people with HD.

 

Kilian Hett, PhD

Postdoctoral Research Fellow, Vanderbilt University Medical Center, Mentor: Daniel Claassen, MD

Cerebrospinal fluid in glymphatic circuit in Huntington’s disease

This study will use use non-invasive MRI technology to investigate HD-related changes in the circulation of the fluid that bathes the nervous system, known as cerebrospinal fluid (CSF). By measuring the flow of CSF in people, Dr. Hett will attempt to understand better how it changes with HD, and, as a result, potentially determine how drug delivery methods might be tailored more personally. This novel idea emerged from a small pilot study, but could have major implications for the delivery of huntingtin-lowering therapies.

 

Maria Rosario Fernandez-Fernandez, PhD

Senior Scientist, Fundación para la Investigación y la Innovación Biosanitaria del Principado de Asturias (FINBA)-ISPA, Mentor: Jose Jesus Fernandez Rodriguez, PhD

Alterations in polysomal architecture associated with Huntington’s disease (HD) progression

This work takes a new approach to exploring and correcting brain cell dysfunction in HD, aimed at the machinery that builds proteins from RNA recipes, known as ribosomes. These organelles often group into structures called polysomes, and Dr. Fernandez Fernandez has found that the machinery is disorganized and tends to stall in animal models of HD. Her goal is to study what goes wrong, then to test existing chemical compounds with “stalling relief” properties in human cells, to restore their ability to produce proteins efficiently.

 

Mitsuko Nakajima, MBChB, MPhil

Clinical Research Fellow, University College London , Mentor: Sarah Tabrizi, PhD, FMedSci

Mapping Premanifest Huntington’s Disease at Ultra-high Resolution

Whether HD begins deep inside the brain and spreads to the outer layers, or vice versa, is currently unknown. Dr. Nakajima proposes to use powerful MRI imaging techniques in combination with magnetic EEG monitoring to look at the structure and function of different brain layers in people who carry the expanded HD gene. This will help to determine what brain changes are present before the onset of symptoms.