News

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 ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

An individual’s ability to control facial muscles might be better than other tools commonly used to measure disease progression among patients with advanced Friedreich’s ataxia (FA), a study says. The findings in “Oral mobility reflects rate of progression in advanced Friedreich’s ataxia,” were published recently in the Annals…

Removal of the genetic defect that causes Friedreich’s ataxia (FA) in heart cells derived from a patient with heart disease associated with FA reversed the cells’ abnormal molecular profile, a study shows. This gene-editing strategy could be a useful tool for regenerative medicine aimed at treating heart defects associated…

Lab-cultured heart tissues derived from patients’ stem cells are a suitable model to study the progression of Friedreich’s ataxia (FA) and to develop and test new therapies, a study says. The study, “Correlation between frataxin expression and contractility revealed by in vitro Friedreich’s ataxia cardiac tissue models engineered…

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…

Pfizer and REGENXBIO have established a new collaboration to develop gene therapies specifically designed to treat people with Friedreich’s ataxia. Under the terms of the agreement, Pfizer will be able to use REGENXBIO’s proprietary NAV adeno-associated virus (AAV) system to deliver genes that could help…

Friedreich’s ataxia caused by GAA repeat expansion and point mutations — a rare origin of the disease — is present in the Brazilian population and should be considered for diagnostic testing and genetic counseling in the country, a study shows. The study, “Frequency and Genetic Profile of Compound…

Biomarkers for Friedreich’s ataxia (FA) may come from measurements of frataxin (FXN) levels in red blood cells and energy production in calf cells, imaging approaches in the nervous system and the heart, as well as markers of nerve cell damage, according to a review of ongoing work. The research,…

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…