News

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,…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

Researchers at UNC School of Medicine described crucial structural features that enable gene therapy vectors to reach the brain. The discovery is key for neurological diseases with ongoing gene therapy trials, such as Friedreich’s ataxia (FA). The study, “Mapping the Structural Determinants Required for AAVrh.10 Transport across the…