News

Alexion Pharmaceuticals has obtained exclusive rights in Japan to develop and market AG10, an oral treatment candidate for familial amyloid polyneuropathy (FAP), also called…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.   …

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive…

The lower levels of a protein called cathepsin E, upon activation of a type of white blood cells called macrophages, in mice with familial…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of…

Tegsedi (inotersen) and Onpattro (patisiran) are both effective treatments to stop the progression of…

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…