News tagged with rare genetic disease

"Saving Eliza" campaign helps another child

Valerie Byers had long suspected that her son Will's diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show about a little girl named Eliza, in late February, she knew instantly that 5-year-old ...

Jul 17, 2015
popularity27 comments 0

Stem cell disease model clarifies bone cancer trigger

Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, ...

Apr 09, 2015
popularity53 comments 0

Crowdfunding helps solve rare disease mystery

Rare diseases—those that affect fewer than one in 200,000 people—are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the ...

Feb 10, 2015
popularity26 comments 0

Subscribe to rss feed