News

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Complement System Activated Years Before Symptoms in 2 AAV Subtypes

The body’s complement system — comprised of blood proteins that fight infection — is specifically activated in individuals with microscopic polyangiitis and ANCA-associated vasculitis (AAV) with myeloperoxidase (MPO) antibodies years before a patient’s symptoms begin, new research shows. “These findings support differential pathogenic [disease-causing] mechanisms behind” these two AAV…

Researchers Develop New Mouse Model of Kidney Injury in AAV

A team of scientists in Europe has developed a novel mouse model of the type of kidney damage that commonly occurs in ANCA-associated vasculitis (AAV), and identified the receptor CXCR4 as a potential target for future therapies. “This model may be a considerable benefit to research aimed at ameliorating…

#RAREis Representation Program Promotes Equity, Diversity

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…

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…

5 Genes Identified as Biomarkers in AAV-related Kidney Damage

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…

Q&A With RARE-X Disease Data Platform Founder, Nicole Boice

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…