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July 19, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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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 ... Read more

July 19, 2019July 19, 2019

GenSight Completes Enrollment Early for Phase 3 Trial of GS010 Gene Therapy

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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 ... Read more

July 11, 2019July 11, 2019

New Lab Model Could Shed Light on Mitochondrial Epilepsy and Therapies

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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 ... Read more

July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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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 ... Read more

June 28, 2019June 28, 2019

Phase 1/2 Trial of Mitochondrial Cell Therapy for Pearson Syndrome Starts Dosing

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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 ... Read more

June 26, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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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 ... Read more

June 21, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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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, ... Read more

June 21, 2019June 21, 2019

Increasing mtDNA Levels Holds Potential for Tackling Mitochondrial Diseases, Mouse Study Suggests

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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 ... Read more

June 19, 2019June 19, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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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 ... Read more

June 14, 2019June 14, 2019

Symptoms Vary Greatly in People with MT-ATP6 Mutations and Better Tests Needed, Study Says

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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 ... Read more