News tagged with rare mutations

Understanding cancer onset

Researchers in Malaysia have analysed the genomes of people with a rare genetic disorder to better understand their predisposition to cancer across generations.

May 27, 2015
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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
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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
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Rare gene mutations raise risk of early heart attack

A team of investigators from the Broad Institute, Massachusetts General Hospital and other leading biomedical research institutions has pinpointed rare mutations in a gene called APOA5 that increase a person's risk of having ...

Dec 10, 2014
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