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As a columnist, I try to read and expose myself to topics that might inform my writing. Recently, I came across a phrase that piqued my interest because it closely reflected what my husband and I, as well as many disease sufferers I’ve met in my work as a patient…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

A single dose of NTLA-2001, Intellia Therapeutics’ investigational gene-editing therapy, safely and effectively leads to rapid and sustained reductions in the levels of the damaging transthyretin (TTR) protein in people with familial amyloid polyneuropathy (FAP), according to interim data from a Phase 1 trial. Notably, maximum TTR reductions…

Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…

I recently accompanied my husband, Aubrey, to an appointment with a specialist at the hospital and noticed a sign taped to the wall in the waiting room. It was a word cloud graphic highlighting the practices that healthcare practitioners strive for to create a good experience for patients. As I…

To mark Amyloidosis Awareness Month, observed each March, the Amyloidosis Foundation is reprising its “Light the Night for Amyloidosis” campaign. The month-long initiative is aimed at heightening awareness about amyloidosis, a group of rare disorders that also includes familial amyloid polyneuropathy (FAP), a progressive disease caused by the…

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

When I married my husband, Aubrey, I knew a hereditary and life-threatening disease affected some members of his family, but I had little other information about it. We naively carried on with our lives, secretly hoping the disease hadn’t reached his generation. When we learned that several of Aubrey’s first…

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

Switching to Onpattro (patisiran) following liver transplant and treatment with tafamidis lessened persistent disease progression in a patient with severe familial amyloid polyneuropathy (FAP), a case study reports. The man carried a rare mutation in the TTR gene — the most common cause of FAP — therefore, further studies…