Dan Lier has light chain (AL) amyloidosis—the most common form of amyloidosis. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews former college basketball player Dan Lier, a ...

Anti-FVIII antibody profiles are closely linked to inhibitor levels in cases of acquired hemophilia A. An exercise in antifactor VIII (FVIII) antibody profiling showed distinct patterns in acquired ...

For the last 3 years, the PBC Foundation, based in Edinburgh, Scotland, has conducted an annual summit that addresses the challenges and potential remedies for those living with primary biliary ...

There are a few debated issues about what one is at risk for if the person has alpha-1 antitrypsin deficiency (AATD). Some things are known for sure, such as the risk of lung or liver disease and ...

Speakers at the panel “Unlocking the future: the convergence of AI, personalized medicine, and genomics” at the World Orphan Drug Congress USA 2025 (Photo by Riya Ajmera) Artificial intelligence could ...

Have you ever looked at a research paper and thought, “Why in the world did they waste time and money on that?” I saw one of those reports the other day about multiple sclerosis (MS) fatigue and life ...

This is a subject we patients like to discuss every so often. And it’s a question I have answered for myself. I used to wonder whether or not the infusions I receive weekly for alpha-1 antitrypsin ...

My recent liver biopsy was a case study of Murphy’s Law in action. And as I share the details of my saga, I’m mindful that my experience is the exception, not the rule. I do not want to discourage ...

Patients with CLL and a CSHA CFS score greater than 3 had significantly higher rates of treatment interruption due to adverse effects. The CSHA Clinical Frailty Scale (CFS) is a valuable tool for ...

The most frequently mutated genes were associated with epigenetic regulatory mechanisms, namely TET2, ASXL1, and DNMT3A. Next-generation sequencing (NGS) identified 14 gene mutations with diagnostic ...

More research is needed to adequately assess the validity and utility of currently available patient-reported outcome measures in HAE. The use of some patient-reported, disease-specific quality of ...

EGPA diagnosis and treatment consume significant healthcare resources, both in public and private settings. Eosinophilic granulomatosis with polyangiitis (EGPA)—a form of antineutrophil cytoplasmic ...