Persons at risk for familial amyloid polyneuropathy (FAP) represent the vast majority of those who undergo pre-symptomatic testing for late-onset neurological diseases (LONDs) in…
News
Therapy with Vyndaqel (tafamidis) nearly stops or slows the progression of familial amyloid polyneuropathy (FAP) in most patients with Val30Met mutations at…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems…
Changes in the immune system and in inflammation may occur before the formation and accumulation of amyloid deposits in people with familial amyloid polyneuropathy,…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of…
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…
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…
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