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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 to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

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 to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

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 already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

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 March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

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 as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

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), a rare genetic mitochondrial disease that causes vision loss. The randomized, double-blind, placebo-controlled trial (NCT02652767), called RESCUE,…

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 muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

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 of disease progression, a study shows. Recognizing this fear as a limiting psychological symptom with real implications in a person’s…

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, the healthcare costs for patients with mitochondrial disease are comparable to those of neurodegenerative diseases such as multiple sclerosis and…

Mutations in an enzyme complex essential for mitochondrial protein production are a newly found cause of mitochondrial disease, researchers found. The study, “Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder,” was published in the journal Nature Communications. Mitochondria play an essential role in…