Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
Two medications — one for arthritis and the other for diabetes — were able to lessen scarring and inflammation in a mouse model of systemic scleroderma (SSc), according to a new study. These results support further research into the medications, tofacitinib and metformin, and others that target the JAK/STAT…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
Low muscle mass is associated with gastrointestinal (GI) bloating in patients with systemic sclerosis (SSc), a recent study revealed. Disease duration, severity, and activity, as well as skin thickening, also were higher in patients with low muscle mass. “At the best of our knowledge, this is the first study…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Levels of signaling molecules called cytokines can be used to identify people with systemic scleroderma (SSc) who are at highest risk of developing abnormally high blood pressure in their lungs, a new study reports. The study, “Cytokine signatures differentiate systemic sclerosis patients at high versus low…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Shorter telomeres — the protective ends on chromosomes and a marker of aging — were observed in people with systemic sclerosis (SSc), particularly among those with lung fibrosis (scarring) or anti-topoisomerase-I autoantibodies (ATA), according to a recent study. In a mouse model of scleroderma, treatment with GSE4 —…
The Fatigue and Activity Management Education in Systemic Sclerosis program — known as FAME-iSS — lessened fatigue and increased the use of strategies for managing what researchers called “one of the most prevalent and disabling symptoms of systemic sclerosis,” a small study reported. FAME-iSS involves group sessions led by…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
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