Senior Researcher Spotlight: Fernando Scaglia Explores Novel Therapeutic Approaches for Mitochondrial Disorders Dakota Campbell Tue, 06/07/2022 - 08:43
Headshot of Fernando Scaglia, MD

Fernando Scaglia, MD, is a professor in the Department of Molecular and Human Genetics at Baylor College of Medicine; co-director of the Pediatric Mitochondrial Medicine Clinic at Texas Children's Hospital; and director of the BCM-CUHK Center of Medical Genetics at Prince of Wales Hospital, Hong Kong. His research focuses on the natural history of mitochondrial disorders, supported by the North American Mitochondrial Disease Consortium (NAMDC). Here, he shares his start in rare disease research, exciting discoveries, and future goals. 

Consortium Spotlight: Advancing Discoveries in Mitochondrial Diseases Dakota Campbell Wed, 06/01/2022 - 14:59
North American Mitochondrial Disease Consortium (NAMDC) logo

The North American Mitochondrial Disease Consortium (NAMDC) was established to create a network of clinicians and clinical investigators in North America who follow sizeable numbers of patients with mitochondrial diseases and are involved or interested in mitochondrial research. Here, Principal Investigator (PI) Michio Hirano, MD, shares the history of the consortium, current research, and future plans.

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. 

Early Stage Investigator Spotlight: Zarazuela Zolkipli-Cunningham Designs Novel Outcome Measures for Mitochondrial Disease Dakota Campbell Thu, 05/19/2022 - 15:25
Headshot of Zarazuela Zolkipli-Cunningham, MBChB, MRCP

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. 

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.