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Genetic Linkage

Genetics in 2016: Breakthrough, Breakdown, and Bridge

I dislike end-of-year "best of" lists, especially the "breakthroughs" that imply scientific discoveries and medical advances emerge from out of nowhere. Often they're the product of PR machines that select and then catapult certain research findings into the news releases that dictate the headlines.

WHAT MAKES SCIENCE NEWS?
Much of science news is released to journalists ahead of time (embargoed) so that we can investigate background and conduct interviews. This year, the Food and Drug Administration began offering news even earlier to select media outlets.  Read More 
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Linking Gaucher and Parkinson’s Diseases

"Gaucher cells" have a crinkly appearance from the build-up of glucocerebroside.
This month, JScreen’s ”Spit Happens" campaign is covering all costs not met by insurance for testing for carrier status for Gaucher disease, thanks to funding from the National Gaucher Foundation. The "spit happens" is an entertaining view of people spitting into tubes to collect DNA from dislodged cheek lining cells. Read More 
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Parent Roundtable: Before and After Gene Therapy

Eliza had gene therapy this past spring, and is showing small signs of improvement.
As the revamped 21st Century Cures Act winds its way through the lame duck Congress, I’m reminded of a spellbinding dinner on Sunday night, October 16. It was the eve of the annual "breakthrough summit" for the National Organization for Rare Disorders, and I’d introduced a group of new friends to share their stories of life with a child who has had, or will have, gene therapy. Read More 
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