News

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…

GenSight Biologics has completed full patient enrollment ahead of schedule for its ongoing Phase 3 trial assessing the safety and efficacy of GS010, the company’s gene therapy designed to improve visual acuity in patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes…

Researchers have created the first laboratory model of epilepsy caused by mitochondrial disorders with the potential to improve scientists’ understanding of how this condition unfolds and to develop therapies to combat it. Until now, no animal models were available to study this severe form of epilepsy, but this new…

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…

A Phase 1/2 trial of a potential Pearson syndrome treatment called Mitochondrial Augmentation Therapy (MAT) has dosed its first pediatric patient. This study of Minovia Therapeutics’s MAT is the first ever of a mitochondrial disease cell therapy. The patient was dosed at the Sheba Medical Center…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Increasing the number of copies of mitochondrial DNA, or mtDNA, may relieve symptoms of mitochondrial diseases and provide a new treatment approach for these disorders, a preclinical study in mice suggests. Because absolute levels of mtDNA can influence disease symptoms, pharmacological or…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Symptoms vary greatly among people with mitochondrial disease linked to any one of the many mutations evident in the MT-ATP6 gene, a study found, and its researchers call for better tests to diagnose this disease in all its forms and determine the best course of treatment for each patient. The…