Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
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…
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…
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 …
People with ANCA-associated vasculitis (AAV) want more disease-related information from their healthcare providers for better self-management, a study based on patient interviews reported. Patients said they needed better communication about symptoms, relapses, living with AAV, and mental health. This led researchers to call on healthcare professionals to…
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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