rare disease
The man who was always drunk, but never drank alcohol: Scientists unwrap the mystery of ‘auto-brewery syndrome’
After years of inexplicably getting drunk without drinking alcohol, having mood swings and bouts of aggression, landing a DWI charge ...
Inside a couple’s quest to pay for an experimental gene therapy to save their children
“We need your help, we really do,” Gary [Landsman] says, his voice breaking. The Landsmans’ two sons—Benny, then 18 months, ...
Rare genetic diseases can arise from unsuspecting carriers
Discovery of the rare disease -- marked by blindness, deafness, fragile bones and albinism -- could lead to genetic screening ...
How 1100 pound woman’s rare genetic disorder helps unravel mystery of obesity
The root causes of the obesity epidemic remain elusive. Studying rare one-gene cases may provide clues to help scientists understand ...
Boy’s death highlights need for reform, more oversight in medical genetics
A lab mischaracterizes a rare genetic mutation and a boy dies. The boy's case shows how our standards for reporting ...
The high-risk world of rare genetic diseases
judging from headlines, rare diseases seem like afflictions of the wealthy. But they are widespread and attention is finally drawing ...
