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…
In 2022, an international group of researchers reported the seminal finding that a gain-of-function variant of a single-stranded ribonucleic acid (RNA) sensor, known as toll-like receptor 7 (TLR7), can cause human systemic lupus erythematosus (SLE).1 The paper in Nature showed that a newly described variant of TLR7, identified in a child with severe lupus, was…
Younger individuals (<50 years) have a stronger genetic component in their fibromyalgia score than older individuals (>60 years), according to a study published in Arthritis & Rheumatology.1 Studies that suggest a strong familial component to fibromyalgia have often focused on individuals with primary fibromyalgia who did not have another accompanying disorder, the study authors report….
NEW YORK (Reuters Health)—Gene expression and chromatin accessibility can be used to identify two Crohn’s disease (CD) molecular subclasses that match distinct disease phenotypes, researchers report. “The hope one day is to be able to test Crohn’s patients for the subtype of the disease they have, and thus determine which treatment should work best,” Dr….
(Reuters Health)—Telling patients about their genetic risk for disease doesn’t usually lead to healthy behavior changes, such as eating better or exercising more, according to a new analysis of existing studies. Researchers selected 18 studies that tracked seven potential behavior changes—such as quitting smoking, diet, physical activity and using sun protection—among people who had received…
(Reuters Health)—Patients who order direct-to-consumer genetic tests report mixed experiences when they take the results to their doctors, a new study found. About a quarter of people who ordered direct-to-consumer genetic testing from such companies as 23andMe reported discussing the results with their primary care doctors. But nearly one in five were not at all…
Recent research has helped further define genetic heritability for pediatric autoimmune diseases. In an interview, Dr. Hakon Hakanarson discusses how understanding common genetic factors can help develop risk prediction and treatments for such diseases as juvenile idiopathic arthritis, lupus and celiac disease…
(Reuters Health)—When people undergo genetic testing to find out whether they’re at risk for a specific disease, doctors often wonder how much information to give them. What if the genetic testing results reveal a risk for a disease the patient hadn’t been wondering about? Geneticists are “grappling with what to do with all the information…
NEW YORK (Reuters Health)—Having a family history of rheumatoid arthritis (RA) does not appear to influence the clinical presentation or treatment response of RA to standard medications, researchers from Sweden report. “At first we were a bit surprised by our findings,” Dr. Thomas Frisell from Karolinska Institutet in Stockholm told Reuters Health by email. “Patients…
Researchers demonstrate that BANK1 is a susceptibility gene for RA, and it may play a role in RA pathogenesis. (posted June 31, 2013)