For the first time, researchers have comprehensively defined the demographic and clinical characteristics of upper limb dystonia, a rare disorder that affects muscles in the arms, forearms, and hands. Powered by the Dystonia Coalition database, the Movement Disorders publication is the largest study of limb dystonia to date.
A new gene is linked to primary ciliary dyskinesia (PCD), a rare disease that affects the airways. Using whole exome sequencing and bioinformatic analysis, researchers from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) identified a variant in the CFAP57 gene that causes PCD, as published in the journal PLOS Genetics.
The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) has awarded 2020 FCDGC Pilot Grants to Kent Lai, PhD, and Lan Lin, PhD.
In a new study, researchers in the Rare Diseases Clinical Research Network’s Brittle Bone Disorders Consortium (BBD) surveyed adolescents with osteogenesis imperfecta (OI) to learn about their oral symptoms and how these affect their quality of life. Participants’ answers are clarifying the oral health needs of kids with OI and guiding future research for orthodontic interventions.
The Myasthenia Gravis Rare Disease Network (MGNet) has awarded the 2020 MGNet Pilot Award to Carolina Barnett-Tapia, MD, PhD, Assistant Professor, Department of Medicine (Neurology) and Institute of Health Policy, Management and Evaluation, University of Toronto. Dr. Barnett-Tapia specializes in patient-centered outcomes in neuromuscular disorders, researching patients’ perspectives on their symptoms and treatments.
When the Rare Diseases Clinical Research Network (RDCRN) awards for the fourth funding cycle were announced early last fall, we couldn't have imagined the challenges ahead due to the COVID‑19 pandemic. Through teamwork and determination, the RDCRN continues to focus on clinical trial readiness, sharing high quality data, cross-network collaborations, and supporting our community during COVID‑19. Read the latest updates from Tiina K. Urv, PhD, Program Director of the Office of Rare Diseases within the National Institutes of Health's National Center for Advancing Translational Sciences.
With the creation of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR, U54 AI117804) in 2014, patient advocacy groups (PAGs) were formally incorporated into the unified infrastructure to facilitate research on EGIDs. A notable champion in this process has been the Campaign Urging Research for Eosinophilic Disease (CURED), a PAG that has earned a name in the EGID community for their generosity in helping others. As a partner of CEGIR since its creation, CURED has contributed in many ways, serving on committees, helping to recruit patients, practicing and teaching advocacy, and financially supporting CEGIR in its missions including its Pilot Programs and Career Enhancement (Training) activities. CURED's generosity is not only to help others but to fund CEGIR with $25,000 per year; these funds are used for a number of CEGIR research activities at the discretion of CEGIR. These activities may include partial funding for the Career Enhancement Core (Training Program) and Research Pilot Studies.