Get to know 2020 NCATS Rare Diseases Are Not Rare! Challenge awardee Rachael Baker, PhD, an assistant professor in chemistry and biochemistry at Calvin University. Baker’s entry, “The Rare Majority Project,” is a social media campaign to help raise awareness of rare diseases and the experiences of people affected by them.
A natural history study by the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is uncovering new insights on liver function in patients with congenital disorders of glycosylation (CDG). A paper published recently in the Orphanet Journal of Rare Diseases based on findings from the study recommends that all CDG patients have at least yearly comprehensive screening for liver disease, including physical exam, lab work, and imaging with ultrasound and elastography.
Tracy Hart, chief executive officer of the Osteogenesis Imperfecta Foundation, serves as chair of the RDCRN’s Coalition of Patient Advocacy Groups. Here, she talks about her work as a rare disease advocate, the founding of the Brittle Bone Disorders Consortium (BBD), and their work in rare disease patient advocacy and research.
The Congenital and Perinatal Infections Consortium (CPIC) brings together a coalition of 29 academic medical centers that have a longstanding history of research in pediatric infectious diseases with community and industry stakeholders. It is one of five new consortia to join the Rare Diseases Clinical Research Network in the latest funding cycle. Here, CPIC leaders share insights on the group’s goals, research projects, and next steps.
Marc Rothenberg, MD, PhD, is the director of the Cincinnati Center for Eosinophilic Disorders (CCED) at Cincinnati Children’s Hospital Medical Center and principal investigator of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). In his clinical practice and research work, he focuses on solving the mysteries of allergic inflammatory diseases, especially eosinophilic gastrointestinal disorders (EGIDs). Here, he shares his inspirations for studying rare diseases, recent discoveries, and future plans.
Health care providers now have a road map for treating two types of congenital disorders of glycosylation: MPI-CDG and PGM1-CDG. A team of international experts from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) published new guidelines for the diagnosis and management of MPI-CDG and PGM1-CDG in the Journal of Inherited Metabolic Disease.
H. A. Jinnah, MD, PhD, principal investigator of the Dystonia Coalition, reports here on a recent paper published in Neurology that examines the relationship between tremors and dystonia.