Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Most children who are diagnosed with CDG have neurological issues and symptoms, developmental problems, growth delays, and problems with organs not working like they should. PMM2-congenital disorder of glycosylation (PMM2-CDG) is the most common type of CDG. Here, we speak to two parents of children diagnosed with PMM2-CDG—Heather Franklin (mother of Michaela, age 13, and Nathaniel, age 11) and Bobbie List (mother of Danielle “Dee,” age 21)—about their journey as a caregiver and advocate for children with a rare disease.
For the first time, patients diagnosed with eosinophilic esophagitis (EoE) have a treatment option approved by the US Food and Drug Administration (FDA). Years of clinical trials led to the official approval of Dupixent (dupilumab) on May 20, 2022. To begin these clinical trials, researchers first had to answer a question—how do we evaluate the effectiveness of a treatment for EoE? A collaborative team of patients, advocates, researchers, and clinicians from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) worked to identify outcome metrics to make these clinical trials possible.
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.
Steven Sloan, MD, PhD, is an assistant professor in the Department of Human Genetics at the Emory University School of Medicine, as well as a member of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). His research focuses on glial development and the role these cells play in neurodevelopmental and neuropsychiatric 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.
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.
Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.