The Rare Disease Report page is a resource for medical news and expert insights on rare diseases. This page features expert-led coverage, articles, videos and research on the therapies and development of treatments for sickle cell disease, multiple myeloma, and more.
May 10th 2024
A Veterans Affairs study finds low alpha-1 antitrypsin phenotyping rates, indicating the need for improved healthcare provider education on AATD.
How Raising Awareness is Changing the Myasthenia Gravis Landscape
March 20th 2018In this video, Beth Stein, M.D. and myasthenia gravis patient Anaya Mitchell explain how raising awareness is changing the landscape for patients with myasthenia gravis and leading to medical breakthroughs for the patient population.
Study Reveals Commonality of Rare Neuropathy in Korean Population
March 16th 2018Results from a study published in the Orphanet Journal of Rare Diseases this week suggest that the hereditary neuropathy with liability to pressure palsies, which has been assumed to be rare, might not be uncommon in the Korean population.
Q&A with Hartmann Wellhoefer, Shire's VP and Head of Medical Affairs; Rare Diseases & Internal Medic
Hartmann Wellhoefer, M.D., head of medical affairs at Shire, recently sat down with Rare Disease Report to discuss the company's recent work for the rare disease community, particularly lysosomal storage diseases.