Liver transplants can significantly prolong survival in familial amyloid polyneuropathy (FAP) patients, and the longer they must wait for the transplant may mean the disease…
News
A 60-year-old man with familial amyloid polyneuropathy (FAP), and quickly progressing nerve damage and heart disease, was found to carry a rare mutation in…
Although most patients with familial amyloid polyneuropathy (FAP) who undergo liver transplant will require a pacemaker, implanting the device before the transplant is not…
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…
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