Tegsedi (inotersen) and Onpattro (patisiran) are both effective treatments to stop the progression of familial amyloid polyneuropathy (FAP), alleviate gastrointestinal symptoms, and improve patients’ overall quality of life, a review study has found. The study, “Novel RNA-targeted…
The Ala97Ser mutation is the most common variant found on the TTR gene that has been associated with familial amyloid polyneuropathy (FAP) in Chinese-Malaysian patients, a study says. The findings of the study, “Ala97Ser mutation is common among ethnic Chinese Malaysians with transthyretin familial amyloid polyneuropathy,” were…
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 United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
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 births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
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 to new research. The study, “The diagnostic utility of neurophysiologic tests for early diagnostic of transthyretin familial amyloid polyneuropathy,” appeared in…
Ambry Genetics and Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals, are expanding a free genetic testing and counseling program called hATTR Compass. hATTR Compass is a no-cost program for confidential genetic testing and genetic counseling for people who are suspected of having hereditary ATTR amyloidosis, also…
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 accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
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 Portugal, according to a 20-year study. The study, “Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal,” appeared…
Therapy with Vyndaqel (tafamidis) nearly stops or slows the progression of familial amyloid polyneuropathy (FAP) in most patients with Val30Met mutations at the transthyretin (TTR) gene, a long-term follow-up of treated patients has found. Moreover, female patients, those with early-stage disease, and patients with…
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 as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…