Patient Advocate Spotlight: Mark Rudolph Supports and Connects the Dystonia Community Dakota Campbell Tue, 05/17/2022 - 09:44
Headshot of Mark Rudolph

Mark Rudolph serves as president of the Dystonia Medical Research Foundation (DMRF), a patient advocacy group that supports individuals and families affected by dystonia. The dystonias are a large group of movement disorders causing uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. Here, he shares his journey to rare disease advocacy, impactful work by the DMRF, and collaboration with the Dystonia Coalition (DC).

Senior Researcher Spotlight: David Peterson Develops Innovative Technologies for Dystonia Dakota Campbell Tue, 05/10/2022 - 11:08
Headshot of David Peterson, PhD

David Peterson, PhD, is an Associate Research Scientist at the Institute for Neural Computation, University of California San Diego (UCSD); Director of the Computational Neurology Center at UCSD; and a member of the Dystonia Coalition (DC). His research focuses on improving outcomes for patients with dystonia, a large group of movement disorders causing uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. Here, he shares his start in rare disease research, exciting discoveries, and future goals.

Consortium Spotlight: Advancing Discoveries in the Dystonias Dakota Campbell Thu, 05/05/2022 - 11:28
Dystonia Coalition logo

The Dystonia Coalition is an international network of researchers and patient advocacy groups working to advance the pace of research in the dystonias, find better treatments, and ultimately a cure. Here, program manager Gamze Kilic Berkmen, PhD, and principal investigator Hyder Jinnah, MD, PhD, share the history of the consortium, current research, and future plans.

Study Finds ABCB6 Genotype Does Not Correlate with Disease Severity in Porphyria Phenotype and More: RDCRN Research Roundup Dakota Campbell Tue, 04/26/2022 - 09:24
Two researchers in the lab looking at a tablet

New research: Study finds ABCB6 genotype does not correlate with disease severity in porphyria phenotype; Tracking progression of sensorimotor outcomes in adrenomyeloneuropathy; Review examines tremor in dystonia