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August 20, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more

August 8, 2019August 8, 2019

Protein’s Inability to Bind, Stabilize Mitochondrial Membrane Drives Optic Atrophy, Study Suggests

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Mutations in the OPA1 gene result in optic atrophy by disrupting the ability of a key protein to bind and stabilize the inner membrane of mitochondria, according to new ... Read more

August 2, 2019August 2, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

July 26, 2019July 26, 2019

Trial of Cholesterol Medication in Barth Syndrome Patients Opens in UK

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The Barth Syndrome Foundation (BSF) and the Barth Syndrome UK announced the start of the CARDIOMAN clinical trial evaluating whether bezafibrate, a cholesterol medicine, can treat boys and men with a rare ... Read more

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