News

Researchers report that genetic tests for Friedreich’s ataxia (FA) are complex and may require additional screening in cases of typical clinical presentation. The study, “Pitfalls in molecular diagnosis of Friedreich ataxia,” was published in the European Journal of Medical Genetics. Friedreich’s ataxia is caused by mutations in the…

Using human cells, researchers have found that targeting the MLH3 protein involved in DNA repair can reduce the GAA repeat expansion that causes Friedreich’s ataxia. This finding adds new knowledge about the mechanisms involved in Friedreich’s ataxia, but it also may lead to new development of disease-modifying therapies. The finding…

Bone marrow transplants led to nerve cell restoration in a mouse model of Friedreich’s ataxia (FA), a study showed. Benefits included improvements in movement, less nervous system damage, and the formation of new nerve cells. The study, “Bone marrow transplantation stimulates neural repair in Friedreich’s ataxia mice,” appeared…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Researchers modified two new classes of drugs, known as duplex RNAs and antisense oligonucleotides, targeted against the Frataxin (FXN) gene, which had a therapeutic effect in cells from patients with Friedreich’s ataxia. The study titled, “Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat,” was…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Statins, a cholesterol-lowering medication, can increase the amount of a good cholesterol component that is found in low levels in Friedreich’s ataxia patients, possibly helping them avoid heart failure, a Philadelphia study shows. Scientists link poor levels of ApoA-I, as the good cholesterol protein is known, to an increased risk…

EURORDIS-Rare Diseases Europe teamed up with biotech Shire and software giant Microsoft to establish the Global Commission to End the Diagnostic Odyssey for Children to tackle and end the delay in diagnosing rare diseases. Patients with rare diseases such as Friedreich’s ataxia (FA), half of them children,…