Headshot of Mark Rudolph
May 17, 2022

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).

Laboratory technician looks through a microscope in a medical laboratory
May 16, 2022

New research: Predicting drugs and chemicals that may induce porphyric attacks in patients with acute hepatic porphyrias; Expanding the spectrum of NFS1-related mitochondrial disorders; Novel biallelic NRROS variants associated with severe neurodegeneration 

Headshot of David Peterson, PhD
May 10, 2022

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.

Scientist working on a computer in a lab
May 09, 2022

New research: Occupational lead exposure is associated with shorter survival in ALS; Analysis of TRB repertoire helps predict outcomes of HCT in patients with severe combined immunodeficiency; Study finds high prevalence of restless legs syndrome in adults with adrenoleukodystrophy

Dystonia Coalition logo
May 05, 2022

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.

COVID-19 virus
May 04, 2022

The National Institutes of Health-supported Rare Diseases Clinical Research Network (RDCRN) conducted a series of online surveys to find out how the COVID-19 pandemic has impacted the rare diseases community. Now, the RDCRN is launching a survey for participants in the NIH COVID-19 antibody study (COVIDSRCH) to compare with the survey completed by individuals with rare diseases.

Scientists using microscopes in the laboratory
May 03, 2022

New research: Bi-allelic NOTCH3 variants may cause early-onset vascular leukoencephalopathy; Review discusses sphingolipids in kidney diseases; Chest x-rays alone may not detect organ laterality defects in primary ciliary dyskinesia