News

The Ala97Ser mutation is the most common variant found on the TTR gene that has been associated with familial amyloid polyneuropathy (FAP) in…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen…

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…

Ambry Genetics and Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals, are expanding a free genetic testing and counseling program called hATTR Compass.

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…

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…

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,…