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.
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.
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.
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
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.