Kent Lai, PhD, is a professor in the Division of Medical Genetics (Pediatrics) at the University of Utah. He is also a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on the development of novel therapeutics for both common and rare diseases, including congenital disorders of glycosylation (CDG). Here, he shares his start in rare disease research, exciting discoveries, and future goals.
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.
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.