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.
Jonathan Miner, MD, PhD, is a physician-scientist and rheumatologist in the Division of Infectious Diseases at the Washington University School of Medicine in Saint Louis, Missouri (Wash U). He is an expert in ultra-rare rheumatic diseases caused by mutations in genes that regulate antiviral immune responses. Many of these diseases are catastrophic and difficult-to-treat.
Dr Miner runs a busy, National Institute of Health (NIH)-funded laboratory. He also leads a rare disease research program and directly cares for these patients, many of whom travel from across country to his clinic. Dr Miner has received many awards and accolades in both rheumatology and infectious diseases, including the Ann Palmenberg Junior Investigator Award from the American Society for Virology, the Young Physician-Scientist Award from the American Society for Clinical Investigation, and the Distinguished Fellow Award from the American College of Rheumatology.