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May 20, 2019May 20, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

April 26, 2019April 26, 2019

GS010 Gene Therapy Continues to Improve Vision Clarity in LHON Patients, New Phase 3 Data Show

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GS010, a gene therapy designed to improve vision clarity in people with Leber hereditary optic neuropathy (LHON), continues to show benefits in the second scheduled readout — at week 72 — ... Read more

April 12, 2019April 12, 2019

Clinicians Should Consider Different Wording in Cases of Unconfirmed Mitochondrial Disease, Study Suggests

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Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected cases have not yet been ... Read more

April 5, 2019April 5, 2019

MDA Conference Bringing Neuromuscular Disease Experts to Orlando to Share ‘New Era’ in Treatment, Research

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For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon on behalf of the Muscular Dystrophy Association. That annual event helped the MDA become the ... Read more

March 29, 2019March 29, 2019

New Phase 1 Trial of Potential Treatment for Mitochondrial Diseases, KL1333, Enrolling in UK

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A second early clinical trial evaluating KL1333, an investigational treatment for genetic mitochondrial diseases, has enrolled its first participant, NeuroVive announced. The Phase 1a/b trial (NCT03888716) of this small molecule treatment ... Read more

March 22, 2019March 22, 2019

University of Arkansas Team Awarded NIH Grant to Find Better Diagnostic Tools for Mitochondrial Diseases

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An interdisciplinary University of Arkansas research team has been awarded a grant by the National Institutes of Health to find better and faster diagnostic tools for mitochondrial diseases. The team ... Read more

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