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Familial amyloid polyneuropathy (FAP) caused by Thr49Ser, a rare disease-causing mutation, was identified for the first time in three patients from Japan, as described in a recent case series. The mutation appears to be highly penetrant, according to the report, meaning most people carrying it develop overt disease symptoms.
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
Early signs of swallowing difficulties and carpal tunnel syndrome may serve as biomarkers for familial amyloid polyneuropathy (FAP) patients carrying the Ala97Ser (A97S) mutation, a study suggests. According to researchers, these factors may help identify A97S patients who might benefit from early treatment. The study, “Unique Phenotypes With…
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…
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…
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…
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