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.
Mustafa Sahin, MD, PhD, leads a team of researchers, physicians and patient advocacy groups working across ten medical centers to study three rare genetic syndromes that often cause autism spectrum disorder and intellectual disability. Here, Dr. Sahin talks about his experiences as a physician and researcher working on the front lines during the pandemic.
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.
An important feature of the Rare Diseases Clinical Research Network (RDCRN) is the direct involvement of patient advocacy groups in our operations, activities, and strategies. To celebrate these powerful collaborations, we worked with patient advocacy groups to share stories of patient involvement in RDCRN research. These stories demonstrate our goals in action—fostering collaboration to advance the diagnosis, management, and treatment of rare diseases.
Seven patients now have a name for their specific congenital disorder of glycosylation (CDG)—a new type called GALNT2-CDG. Researchers from Frontiers in Congenital Disorders of Glycosylation (FCDGC) describe the new disorder, caused by mutations in the GALNT2 gene, in the journal Brain.
Rare disease patients or their caregivers are invited to complete a 20-minute online survey from home about the ways the novel coronavirus pandemic is impacting people with rare diseases and their families.
What is the genetic cause behind impaired mucociliary clearance of the lungs? Researchers from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) contributed to the discovery of a new disease gene, NEK10, that regulates cilia length.