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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 ...
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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, ...
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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 ...
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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 ...
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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 ...
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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 ...