Rare Disease Day Panel Opens Window to Patient Experience

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…

Genetic biomarkers and immune pathways related to kidney damage in people with ANCA-associated vasculitis (AAV) were identified in a recent study. The five identified biomarker genes may be involved in the progression of kidney damage through immune system signaling, its researchers said. The study, “Identification of Hub Biomarkers and…

Among many health-support communities, there’s an ongoing discussion regarding pharmaceuticals versus natural healing. Once we patients have a diagnosis, the next step is to determine a treatment plan. But how do we know what’s the best route to keep our immune systems clean and functioning well, with the lowest…

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…

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…

A molecule called sulfatide is found at low levels in people with ANCA-associated vasculitis (AAV), and may indicate the presence of inflammation and a form of kidney damage that is associated with poor outcomes, a pilot study reports. Thus, sulfatide levels may be a useful biomarker for AAV, a…

There’s an intriguing dichotomy in the vasculitis community, and I believe it’s one to be thankful for. My journey with granulomatosis with polyangiitis began in relative isolation. I was unfamiliar with the medical terms and treatments, and overwhelmed by the new normal that stood in front of me like…

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.

Note: This story was updated Feb. 22, 2022, to update the headline and clarify that some patients on rituximab do not mount an effective T-cell response to the COVID-19 vaccine. A significant proportion of patients on rituximab, including those with …

“Tell me about your disease.” This should be an uncomplicated request, but it’s not. Where do I start? What do I say that accurately encapsulates vasculitis but doesn’t confuse, mischaracterize, or bore? On the surface, describing my condition is simple: It’s an autoimmune disorder that causes inflamed blood vessels. But…