News

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and…

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…