Epidermolysis bullosa is a rare blistering disorder caused by mutations > 21 genes. Genetic testing, particularly Next Generation Sequencing (NGS), is the current gold standard. Alternative tools such as immunofluorescence mapping (IFM) and electron microscopy (EM) aid in subclassifying EB, yet few studies have compared their performance. To assess the accuracy, specificity, and sensitivity of IFM and EM, using genetic diagnosis as the reference standard. Retrospective study of 84 genetically confirmed EB patients who underwent IFM and EM. IFM correctly diagnosed 65.5
Rare disorders, defined as having fewer than 200,000 affected individuals in the United States, present unique challenges due to their rarity. Few single institutions possess the comprehensive experience, clinical expertise, advocacy, and research background necessary to optimize patient care for those affected by a variety of rare disorders. The National Organization for Rare Disorders (NORD®), an umbrella organization advocating for all rare disease groups, has designated 49 Rare Disease Centers of Excellence (RD CoE), representing more than 170 academic medical and research institutions. These designated centers demonstrate broad rare disease capacity across facilities, clinical expertise, research, advocacy, and experience in managing rare diseases. NORD’s RD CoE framework fosters collaboration aimed at improving care for individuals with rare diseases. Given the complexities of rare diseases, the Network provides a structure for connecting institutions and is developing infrastructure intended to facilitate multi-institutional studies, appropriate data sharing, collaborative protocol development, and broader participation in rare disease clinical research. It also connects academic centers with patient organizations and other partners to support research, education, and therapeutic implementation. This paper describes the creation, selection process, governance, and early collaborative infrastructure of the NORD RD CoE Network.
Monitoring progression in Fabry disease is essential to optimize treatment and improve long-term outcomes. This work aimed to identify practical clinical indicators—or “alerts of progression”—to support timely therapeutic reassessment in patients receiving treatment. Using a nominal group technique, a panel of eight Spanish clinicians with expertise in Fabry disease established consensus-based criteria for disease monitoring across four domains: cardiac, renal, neurological, and disease-specific and treatment-related biomarkers. Candidate progression parameters identified through a preparatory evidence review and expert discussion were prioritized by allocating up to 5 points per expert within each domain. Parameters receiving ≥ 15
