Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose ... Read more
Updates
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GS010 Gene Therapy Continues to Improve Vision Clarity in LHON Patients, New Phase 3 Data Show
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 ... Read more -
Clinicians Should Consider Different Wording in Cases of Unconfirmed Mitochondrial Disease, Study Suggests
Clinicians may be able to avoid unnecessary fear and inappropriate care by categorizing patients as “diagnosis uncertain” instead of “possible” mitochondrial disease when suspected ... Read more -
MDA Conference Bringing Neuromuscular Disease Experts to Orlando to Share ‘New Era’ in Treatment, Research
For more than four decades, comedian Jerry Lewis hosted the MDA Labor Day Telethon on behalf of the Muscular Dystrophy Association. That annual event ... Read more -
New Phase 1 Trial of Potential Treatment for Mitochondrial Diseases, KL1333, Enrolling in UK
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) ... Read more
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University of Arkansas Team Awarded NIH Grant to Find Better Diagnostic Tools for Mitochondrial Diseases
An interdisciplinary University of Arkansas research team has been awarded a grant by the ... -
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will ... -
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ... -
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
Rare diseases affect about 30 million Americans — roughly the same number as those ... -
WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ... -
Vienna to Host RARE2019 Meeting on Rare Diseases
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...
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Researchers Develop Method That May Help Diagnose Mitochondrial Diseases
News
Scientists have developed a new strategy for diagnosing mitochondrial diseases and identified the Mrps34 gene as a cause for Leigh syndrome. The study, “Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome,” was ... Read more