Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
To help reduce out-of-pocket medical expenses associated with managing and treating Fabry disease, an independent charitable patient assistance foundation has now added the disorder to its programs. Called The Assistance Fund (TAF), the organization assists eligible patients with insurance co-payments, coinsurance, deductibles, and other health-related expenses. Fabry disease…
Because there is relatively less awareness of rare genetic diseases, which often share symptoms common to better-known disorders, a program has been created to provide access to free diagnostic genetic testing for several lysosomal storage diseases, including Fabry disease. Tens of thousands of lysosomal storage disease cases go undiagnosed.
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