News

Dr. Andria Ford presented “Cerebral oxygen extraction predicts brain lesion progression in Retinal Vasculopathy with Cerebral Leukocencephalopathy, a monogenic microvasculopathy” at the Rare Diseases Day Symposium 2024 in EPNEC at Washington University School of Medicine.

Drs. Wilson Wang and Rajendra Apte and colleagues publish novel insights into the quantifying RVCL disease progression using OCT, OCT-A, and FA: “Multimodal Structural and Functional Characterization of Retinal Vasculopathy with Cerebral Leukoencephalopathy” in Ophthalmology Retina.

Congratulations to the four scientists and their teams who recently were  awarded two-year grants by the Clayco Foundation for RVCL research projects. One theme of these new grants is development of model systems that are critical to determining how cells are damaged by RVCL. A model system also will greatly help development and assessment of new RVCL therapeutics. […]

Multisystem autoimmune rheumatic diseases are rare or ultra-rare disorders linked to significant mortality and morbidity. However, with the rise of new technology, including data registries and advanced genetic analysis, rare rheumatic disease research is being propelled forward to inform future therapeutic options and improve patient outcomes. In light of Rare Disease Day 2021, Dr Jonathan Miner, MD, PhD, discusses his work and contributions to the rare disease space, and speaks to the importance of research and the management of patients with rare rheumatic diseases.