News tagged with rare genetic disease

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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Vitamin B12 deficiency: Tracking the genetic causes

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...

Aug 26, 2012
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New DNA test for diagnosing diseases linked to childhood blindness

Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published online today in Ophthalmology, the journal of the American Academy o ...

Aug 21, 2014
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