Art Estopinan is a government consultant and political advisor who has spent his life advocating for different causes. When his son Arturo, now 11, was diagnosed with TK2-related mitochondrial DNA depletion syndrome (MDS), the Estopinan family became his biggest advocates. Here, Art shares their journey from facing a difficult prognosis to finding a therapy that saved his son’s life.
Zarazuela Zolkipli-Cunningham, MBChB, MRCP, is an attending physician in the Mitochondrial Medicine Frontier Program (MMFP) at Children's Hospital of Philadelphia (CHOP) and a member of the North American Mitochondrial Disease Consortium (NAMDC). Her research focuses on conducting natural history studies with an emphasis on longitudinal objective measures for mitochondrial disease. Here, she shares her start in rare disease research, exciting discoveries, and future goals.
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).
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
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.
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
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.