The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

People with mitochondrial disease typically can visit on average eight different doctors, and undergo multiple tests before finally getting an accurate diagnosis, a patients’ survey reports. The study  reporting its results, “The Mitochondrial Disease Patient’s Diagnostic Odyssey: Results of A Survey,” appeared in the journal Neurology Genetics and…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Researchers have found that certain mutations in the mitochondrial genes, which alone don’t seem to cause disease, are sufficient to trigger Leber’s hereditary optic neuropathy (LHON) when combined. Based on their findings, researchers defend a new approach for diagnosing LHON and perhaps other mitochondrial…

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…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

Because treatment for mitochondrial DNA diseases is largely limited to addressing only symptoms, researchers are increasingly looking at mitochondrial replacement therapies as a way to allow women to have genetically related children while reducing the risk of transmitting disease. Mitochondrial replacement therapies involve a new and innovative technology to prevent…