Patient Spotlight: Estopinan Family Advocates for TK2-Related Mitochondrial DNA Depletion Syndrome Dakota Campbell Thu, 05/26/2022 - 13:33
The Estopinan family at an outdoor gathering

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. 

Registry Data Offers First Wide-Ranging Look at Mitochondrial Diseases Population Dakota Campbell Thu, 04/30/2020 - 08:48
Michio Hirano, MD, and Emanuele Barca, MD, PhD
Michio Hirano, MD, and Emanuele Barca, MD, PhD

For the first time, researchers have described the spectrum of mitochondrial diseases (MtDs) in North America. A new study in Neurology Genetics uses data from the North American Mitochondrial Disease Consortium (NAMDC) Registry to evaluate the clinical, biochemical, and genetic features of patients with MtDs.