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Articles tagged with "genetics"

Nature vs. Nurture & Their Roles in Autoimmunity

Bharat Kumar, MD, MME, FACP, FAAAAI, RhMSUS  |  May 12, 2025

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

Gretchen Henkel  |  December 14, 2020

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…

Alpha Tauri 3D Graphics / shutterstock.com

Study Elucidates Potential Flare Pathways in Rheumatoid Arthritis

Ruth Jessen Hickman, MD  |  December 14, 2020

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…

Dana Robochek / shutterstock.com

VEXAS: A Newly Identified & Vexing Myeloid-Driven Inflammation

Bryn Nelson, PhD  |  December 14, 2020

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

Carina Stanton  |  November 24, 2020

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

Philip Seo, MD, MHS  |  September 19, 2018

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

Lara C. Pullen, PhD  |  July 31, 2017

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…

Genes Connect Parkinson’s Disease to Autoimmune Diseases

Lara C. Pullen, PhD  |  July 3, 2017

A study has identified several common genetic pathways between Parkinson’s disease and autoimmune diseases. Specifically, researchers have used a genome-wide conjunctional analysis to identify 17 novel loci that overlap the conditions…

Can Genetic Information Change the Clinical Care of Rheumatology Patients?

Mary Beth Nierengarten  |  February 15, 2017

WASHINGTON, D.C.—Calling it an extremely challenging topic, Peter K. Gregersen, MD, professor and head, Robert S. Boas Center for Genomics and Human Genetics, Feinstein Institute, Manhasset, N.Y., said the current role of genetics in clinical practice is less about how to use genetic information to care for patients and more about how providers and patients…

2015 ACR/ARHP Annual Meeting: Genetic Links Emerge in Osteoarthritis

Thomas R. Collins  |  March 15, 2016

SAN FRANCISCO—As researchers have delved into the genetics behind osteoarthritis (OA), genes that appear to be players in the disease have emerged, but there have also been curveballs thrown, with expectations not always matching up to the genetic realities, an expert said at the 2015 ACR/ARHP Annual Meeting. The genetic risk of acquiring OA is…

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