News

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb.

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced…

A review of 542 cases of hereditary transthyretin amyloid polyneuropathy (ATTR-PN) from more than 100 countries suggests that the clinical symptoms and geographical occurrence of…

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…

Eye problems due to transthyretin (TTR) deposition are more prevalent among patients who have had hereditary amyloidosis for longer periods of time and have undergone…

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…

Treatment with Vyndaqel (tafamidis) is a safe, non-invasive way to delay neurologic progression of transthyretin familial amyloid polyneuropathy (TTR-FAP), and preserves patients’ nutritional status…

Cardiac problems are the leading cause of death among transthyretin familial amyloid polyneuropathy (ATTR, also called FAP) patients who have had a liver transplant, according…

Length of naturally occurring repeats in the sequence of the ATXN2 gene may affect the age of onset of transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).