The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to…
News
The U.S. Food and Drug Administration (FDA) is extending by three months its review timeline for vutrisiran, an experimental therapy for familial amyloid polyneuropathy…
Small vesicles in the blood contribute to the clumping or aggregation, and toxic accumulation of the transthyretin (TTR) protein in people with familial amyloid…
A highly sensitive tool has been developed to help identify patients with familial amyloid polyneuropathy (FAP). Using a compound score based on clinical symptoms…
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…
Familial amyloid polyneuropathy (FAP) caused by Thr49Ser, a rare disease-causing mutation, was identified for the first time in three patients from Japan, as described…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities…
Early signs of swallowing difficulties and carpal tunnel syndrome may serve as biomarkers for familial amyloid polyneuropathy (FAP) patients carrying the Ala97Ser (A97S) mutation,…
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…
A single dose of NTLA-2001, Intellia Therapeutics’ investigational gene-editing therapy, safely and effectively leads to rapid and sustained reductions in the levels of the…
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