Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers…
News
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of…
Familial amyloid polyneuropathy (FAP) patients carrying the Val30Met mutation are more frequently misdiagnosed and tend to have neurologic and cardiac complications more…
Variants in two genes involved in the body’s immune response and inflammation were associated with age-of-onset of symptoms in Portuguese families with familial…
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their…
Tegsedi (inotersen) continues to slow progression of familial amyloid polyneuropathy (FAP) and maintains the…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare…
Narrowing of the spinal canal due to a buildup of proteins — transthyretin (TTR) amyloid deposits — was reported in a rare case of…
Variability in the onset and penetrance of TTR-related amyloidosis (ATTR) among members of the same family may be linked to the expression of different…
News
Vyndaqel Safe But Generally Ineffective at Delaying FAP Neuropathy in Long Term, Study Suggests
Long-term treatment with Vyndaqel (tafamidis) is safe and well-tolerated by patients with transthyretin familial amyloid…
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