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March 15, 2019March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of ... Read more

March 13, 2019March 13, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed ... Read more

March 7, 2019March 7, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known ... Read more

March 1, 2019March 1, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

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The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have ... Read more

February 22, 2019February 22, 2019

Vienna to Host RARE2019 Meeting on Rare Diseases

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About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The ... Read more

February 15, 2019February 15, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run ... Read more

February 8, 2019February 8, 2019

Topline Results Announced for Phase 3 Trial Testing GS010 in LHON Patients

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GenSight Biologics annnounced the topline results of a Phase 3 clinical trial for GS010, a gene therapy designed to improve vision acuity in patients with Leber hereditary optic neuropathy (LHON), ... Read more

February 1, 2019

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

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The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal ... Read more

February 1, 2019February 1, 2019

Certain MELAS Patients Have Higher Fear of Disease Progression, Study Shows

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More than one-fifth of patients who are carriers of the m.3243A>G mutation, one of the most common genetic variants linked to MELAS spectrum disorder, have a significantly higher fear ... Read more

January 25, 2019January 25, 2019

Healthcare Utilization of Mitochondrial Disease Patients Much More Costly Than General Population

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How — and how often — patients with mitochondrial diseases make use of healthcare services represents a greater burden than that of the general population, a retrospective study shows. Moreover, ... Read more

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