News

Measuring thresholds of cold detection, heart rate variability, and the skin’s electrical conductance may allow for earlier diagnosis of familial amyloid polyneuropathy (FAP), according to new research. The study, “The diagnostic utility of neurophysiologic tests for early diagnostic of transthyretin familial amyloid polyneuropathy,” appeared in…

Ambry Genetics and Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals, are expanding a free genetic testing and counseling program called hATTR Compass. hATTR Compass is a no-cost program for confidential genetic testing and genetic counseling for people who are suspected of having hereditary ATTR amyloidosis, also…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

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 Portugal, according to a 20-year study. The study, “Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal,” appeared…

Therapy with Vyndaqel (tafamidis) nearly stops or slows the progression of familial amyloid polyneuropathy (FAP) in most patients with Val30Met mutations at the transthyretin (TTR) gene, a long-term follow-up of treated patients has found. Moreover, female patients, those with early-stage disease, and patients with…

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 as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

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 easily evident in the blood, new research finds. The study, “Inflammatory profiling of patients with familial amyloid polyneuropathy,” were…

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 of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

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, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

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 lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…