Rarest of Them All: Ultra-Rare Rheumatic Diseases – Part 1

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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 rare diseases, and speaks to the importance of research and the management of patients with rare rheumatic diseases.

For more information on the incredible work being conducted by Dr Miner and team in the rare disease space, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL), please visit RVCL Research Center at Penn Medicine.

Read the full transcript for this episode here.

Featured Guest

Jonathan Miner, MD, PhD, is a physician-scientist and associate professor of medicine in the Division of Rheumatology at the University of Pennsylvania (Penn) Perelman School of Medicine in Philadelphia.

Dr Miner is an expert in 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.