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.

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. 

Predicting Drugs and Chemicals that May Induce Porphyric Attacks in Patients with Acute Hepatic Porphyrias and More: RDCRN Research Roundup Dakota Campbell Mon, 05/16/2022 - 15:02
Laboratory technician looks through a microscope in a medical laboratory

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