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July 2, 2019July 2, 2019

Blood Biomarkers Show Inflammation in FAP Patients Before Amyloid Deposits Evident, Study Find

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Changes in the immune system and in inflammation may occur before the formation and accumulation of amyloid deposits in people with familial amyloid polyneuropathy, with biomarkers of these alterations ... Read more

June 26, 2019June 26, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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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 learn about their conditions, ... Read more

June 18, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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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 their caregivers. But most ... Read more

June 11, 2019June 11, 2019

Late-onset FAP Associated with Misdiagnosis, Greater Severity, Brazilian Study Finds

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Familial amyloid polyneuropathy (FAP) patients carrying the Val30Met mutation are more frequently misdiagnosed and tend to have neurologic and cardiac complications more commonly if they have the late-onset form ... Read more

June 4, 2019June 4, 2019

Variants in C1QA and C1QC Genes Associated with Age at Onset in Portuguese Families

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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 amyloid polyneuropathy (FAP), due to the ... Read more

May 28, 2019May 28, 2019

Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries

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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 own disease registries. The site ... Read more

May 21, 2019May 21, 2019

#AANAM – Tegsedi Continues to Benefit FAP Patients for up to Two Years

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Tegsedi (inotersen) continues to slow progression of familial amyloid polyneuropathy (FAP) and maintains the same safety profile over two years of treatment, results of an open-label extension study show. ... Read more

May 15, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

April 23, 2019April 23, 2019

Rare Case of Spinal Canal Narrowing Due to Amyloid Buildup Reported in FAP Patient

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Narrowing of the spinal canal due to a buildup of proteins — transthyretin (TTR) amyloid deposits — was reported in a rare case of familial amyloid polyneuropathy (FAP). The case ... Read more

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