Eileen King, PhD, FASA, co-principal investigator with the Rare Diseases Clinical Research Network’s Data Management and Coordinating Center (DMCC), highlights the role of the DMCC and initiatives underway to help RDCRN participants “get to work” on speeding diagnoses and developing new treatments for people with rare diseases.
The Rare Diseases Clinical Research Network (RDCRN) will be collaborating with the NIH’s National Institute of Allergy and Infectious Diseases (NIAID) and the University of Pittsburgh on a SARS-CoV-2 Pandemic Serosurvey among people who live with rare diseases.
Get to know 2020 NCATS Rare Diseases Are Not Rare! Challenge winner Jacob Thompson, an inspirational speaker, spoken word poet, and hip-hop artist. Thompson’s entry, “Keep on Fighting,” is a spoken word performance to encourage those who are challenged, whether with rare disease or in general, and to raise awareness for rare diseases.
Get to know 2020 NCATS Rare Diseases Are Not Rare! Challenge awardee Ramona Behshad, MD, an assistant professor in dermatology at Saint Louis University School of Medicine. Behshad’s entry, "Rare Disease Photo Challenge,” is a social media campaign to help raise awareness about rare diseases.
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.