Study Identifies New Targets for Huntington’s Disease Research

Ghazaleh Sadri-Vakili, PhD, is the director of the NeuroEpigenetics Laboratory at Massachusetts General Hospital’s Institute for Neurodegenerative Diseases (MIND).  Her work investigating the genetics of Huntington’s disease was recently featured in an article on the Mass General Giving website.

Here are five things to know:

  1. Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. Symptoms typically start occurring between the ages of 30 and 50. The disease is highly heritable—each child of a parent with HD has a 50% chance of inheriting the faulty gene.
  2. According to the Huntington’s Disease Society of America (HDSA), symptoms of HD typically begin with a loss of coordination and cognitive skills. These declines get more pronounced as the disease progresses. In late stages, HD patients lose the ability to walk and speak, and choking becomes a major concern. Death is typically due to complications from the disease and not the disease itself.
  3. Researchers at Massachusetts General Hospital have been at the forefront of research into the genetic underpinnings of Huntington’s disease for the past two decades. In 1983, a team led by James Gusella, PhD, identified the section on chromosome 4 where the HD gene was located. In 1993, a multi-institutional research group that included Marcy E. MacDonald, PhD, and Dr. Gusella identified the gene itself.
  4. Recently, a research team led by Ghazaleh Sadri-Vakili, PhD, has been studying how gene expression differs in patients with HD. Her team has identified two ways in which a genetic pathway known as the Hippo pathway malfunctions in HD. These malfunctions cause HD patients to produce too much of an enzyme called MST, and not enough of a protein called YAP.
  5. If researchers are able to identify drugs that correct this imbalance, they may be able to develop treatments that slow or halt the progression of the disease.

Using Smartphones to Measure Parkinson’s Disease Symptoms

Woman holding smartphone on couch
Mobile technology has impacted nearly every aspect of our lives, including how we manage our health. A recently launched substudy (a subset of a larger research question) from Parkinson’s disease researchers at Massachusetts General Hospital will look into utilizing patient-owned smartphones to measure symptoms of Parkinson’s disease. The results will help researchers better understand the feasibility and accuracy of using mobile technology as a data collection tool in clinical trials.

Participants in this substudy will use an mPower app called ‘Smart4SURE.’ Within the app, patients will answer symptom surveys similar to those administered during in-person clinic visits. They will also complete activity tests that utilize the sensors in the phone to assess performance in movements that are impacted by Parkinson’s disease – including walking, standing, tapping on the phone and saying “ah.“

This substudy, which is part of a larger NIH-funded Parkinson’s disease clinical trial, hopes to expand and diversify study enrollment by making it easier for patients to participate. More broadly, researchers are optimistic that mobile technology will transform clinical trials and provide an opportunity to track participant progress more frequently than is possible with in-clinic evaluations.

Michael Schwarzschild, MD, PhD, of the MGH Department of Neurology is the study’s lead investigator. Learn more about the substudy here.

Brain Disease Researchers Track Elusive Protein

Devastating brain diseases like Frontotemporal Dementia and Alzheimer’s have been painfully slow to give up their secrets.  But behavioral neurologist Brad Dickerson, MD, and his Mass General research team are tracking an important protein that has long eluded measurement in the living brain.  Their work may mark a turning point in how such now-incurable conditions are understood and treated.

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Mass General Researcher Recounts Trip To Bhutan to Test Smartphone-Based EEG

(Editor’s note: This post was written by Sarah Clark, a project manager at Massachusetts General Hospital working with the Global Neurology Research Group led by Farrah Mateen, MD, PhD. Clark is pictured below at left, Mateen at right.)

“I recently had the amazing opportunity to travel to Bhutan to work with epilepsy patients for a clinical research study. I’m the project manager for the Global Neurology Research Group, led by Farrah Mateen, MD, PhD, at the Neurological Clinical Research Institute at Massachusetts General Hospital.

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