News

Genetic sequencing can help to diagnose familial amyloid polyneruopathy (FAP) in people diagnosed with neuropathy of unknown origin — and sequencing is more reliable…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar,…

Urinary and sexual problems are highly prevalent in people with familial amyloid polyneuropathy (FAP) and should be tackled by a comprehensive and multidisciplinary…

Akcea Therapeutics’ next-generation antisense medicine AKCEA-TTR-LRx (ION-682884) — currently in development for the treatment of all forms…

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…