Anderson et al. studied genetic data on more than 190,000 participants and found 23 who had genetic variants in the UBA1 gene, which is associated with VEXAS.
Incomplete Penetrance in Autoinflammatory Diseases
At this ACR Convergence 2025 session, immunologist Dusan Bogunovic, PhD, discussed his team’s research into how genetic immune diseases manifest with different phenotypes in different people.
New Analysis Reveals More Potential Contributors to Takayasu Arteritis
Recent research led to development of a cumulative genetic risk score for Takayasu arteritis, identifying differing susceptibility between groups with different genetic ancestries.
Nature vs. Nurture & Their Roles in Autoimmunity
They looked exactly alike—tall, slightly scruffy gentlemen with denim overalls lightly stained with dirt and oil, with dusty trucker hats to match. The only difference was that one wore a red checkered shirt and the other wore a green one. Yet these similarities were deceptive. The one closest to me was the patient, the one…
Meet Dr. Lindsey A. Criswell, the First Woman Director of NIAMS
In early 2021, Lindsey A. Criswell, MD, MPH, DSc, one of rheumatology’s preeminent autoimmune genetics researchers, will become the new director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases. She will be the first woman to hold that post. Dr. Criswell will be leaving her current position as vice chancellor of research…
Study Elucidates Potential Flare Pathways in Rheumatoid Arthritis
Research in The New England Journal of Medicine has opened new avenues for exploring the pathophysiology of disease flares in rheumatoid arthritis.1 Through longitudinal genomic analysis, researchers have identified a naive B cell signature prior to rheumatoid arthritis flares, as well as a type of mesenchymal cell, that may play an important role in flare…
VEXAS: A Newly Identified & Vexing Myeloid-Driven Inflammation
A large, international team of rheumatologists, geneticists, hematologists and other researchers has discovered a severe inflammatory syndrome linked to an acquired genetic mutation in the bone marrow of older men. The X-linked syndrome, they found, is caused by a somatic mutation in myeloid stem cells that hobbles the master regulator of a pathway tasked with…
2020 Pediatric Rheumatology Research in Review
ACR CONVERGENCE 2020—This has been a busy year for research publications covering a number of pediatric rheumatic diseases, including the emerging multi-system inflammatory syndrome (MIS-C) associated with SARS CoV-2. Despite the many challenges brought about by the COVID-19 pandemic, a healthy collection of publications covering a wide range of pediatric rheumatology research topics were published…
The Promise of Molecular Medicine
Honestly, I’m not sure why I bothered to listen. I was in my kitchen, early on a Saturday morning, with the radio keeping me company. It started with the news and the usual litany of tragedies, both major and minor, that comprise such programs. The news gradually faded into other programming, which I can no…
Genetic Analysis Provides Insights into How Human Growth Is Linked to OA
Research has shed light on the genetic mutations that link GDF5 with arthritis and height. An ancient regulatory variant in GROW1 has been repeatedly selected in humans in northern environments, explaining the high frequency of a GDF5 haplotype that increases arthritis susceptibility…