Tag Archives: Rare

The most expensive medicine ever treats a rare condition. The price: $2.13 million – Los Angeles Times

Evelyn Villarreal was one of the first children treated, at 8 weeks. Her family, from Centreville, Va., had lost their first child to spinal muscular atrophy at 15 months. Two years later when Evelyn was born a test showed she also had the disease, so the family enrolled her in the gene therapy study at… Read More »

Montreal doctors’ ‘Hail Mary’ treatment could save babies’ lives from most common of all rare diseases

MONTREAL — Lyana Deslauriers was born with eyes a magnetic, ethereal blue, low-set ears and a heart two sizes too large. That thick, dense heart would keep growing and threaten to kill the Joliette, Que., toddler before her Montreal doctors tried something never before attempted — a “Hail Mary” that could turn the world’s most… Read More »

Innovative Imaging Technology Effectively Measures Disease Severity in Rare Neurodegenerative Disorder

A rapid, non-invasive eye exam that uses innovative imaging technology effectively measures the severity of disease in patients with a rare neurodegenerative disease called Friedrich ataxia, according to a study by Weill Cornell Medicine, Weill Cornell Medicine-Qatar and NewYork-Presbyterian researchers. The results suggest that the exam, known as corneal confocal microscopy (CCM), could be a… Read More »