Groundbreaking Investigations Seek Cure for Disabling Childhood Dystonia

The Dystonia Medical Research Foundation (DMRF) announced its latest post-doctoral fellowship awards to advance research toward improved dystonia treatments and a cure. For more than 40 years, the DMRF has funded dystonia science and created opportunities for young investigators to establish careers in this growing field. Dystonia is the third most common movement disorder, affecting no fewer than 250,000 Americans and potentially millions worldwide.

This year’s post-doctoral research fellows reflect the recent swell of groundbreaking new findings about dystonia including discoveries into the underlying pathophysiology. Advances in biochemical and gene editing technology, combined with decades of investing in basic science in dystonia, are creating opportunities for novel investigations not previously possible. The funded investigators are focusing on one of the field’s greatest puzzles: how changes in a mysterious protein found in brain cells leads to a disabling inherited type of dystonia that targets children.

The DMRF post-doctoral research fellowship awardees are as follows:

Barbara Oliver Memorial Dystonia Research Award
Investigator: Gabriela Huelgas-Morales, PhD, University of Minnesota
Mentor: David Greenstein, PhD
Project: Using the Nematode Caenorhabditis elegans to Identify Candidate Substrates for OOC-5/TorsinA

In 1997 researchers discovered that a tiny error in the DYT1 gene was responsible for a severe type of childhood dystonia. The genetic error interferes with the ability of a protein in the brain called TorsinA to function correctly. Dystonia investigators around the world have been working to understand how TorsinA operates normally and what cellular functions go wrong when the protein is dysfunctional. Dr. Morales is using a worm model to identify TorsinA substrates, i.e. proteins that TorsinA acts upon. This is critical to understanding the basic cellular functions of TorsinA and origins of DYT1 childhood dystonia.

Investigator: Anthony Rampello, PhD, Yale University
Mentor: Christian Schlieker, PhD
Project: A Genetic Approach towards Identifying Torsin Function in Relation to DYT1 Dystonia

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) represents a profound advancement in genome editing technology. CRISPR is used to edit genetic material in living organisms easier, faster, and with greater precision than previous methods. While popular news reports tend to focus on the potential use of CRISPR for genome editing in humans, the primary application has been in basic research using cell and animal models. Dr. Rampello is using CRISPR to establish a TorsinA interaction map by systemically tracking down genes and proteins that have a functional relationship to TorsinA. Mapping the network of cellular processes in which TorsinA is involved is critical to understanding how TorsinA causes dystonia when made dysfunctional by errors in the DYT1 gene. This project is supported by the family of Ron and Barbara Oliver and the Barbara Oliver Memorial Research Fund.

Dystonia is a chronic, often disabling, neurological disorder marked by extreme, involuntary muscle contractions that cause abnormal body movements and postures. Common signs include abnormal movements of the head and neck, excessive blinking, a breathy or choking voice, hand cramps, or a twisted foot. Because dystonia is not better known, symptoms are often mistaken for mental illness, intoxication, or poor social skills. Dystonia impacts people of all ages and backgrounds. There is currently no cure, and though treatments exist there is no single therapy that benefits even a majority of patients.

Learn more about current research investigations funded by DMRF.

---

The Dystonia Medical Research Foundation is a 501(c)(3) non-profit organization dedicated to advancing research for improved dystonia treatments and ultimately a cure, promoting awareness, and supporting the well-being of affected individuals and families.