(Medical Xpress)—UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic ...
May 10, 2013
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Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
May 10, 2013
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After years of research, the first bionic eye has seen the light of day in the United States, giving hope to the blind around the world.
Feb 5, 2013
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Johns Hopkins researchers report concrete steps in the use of human stem cells to test how diseased cells respond to drugs. Their success highlights a pathway toward faster, cheaper drug development for some genetic illnesses, ...
Nov 26, 2012
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(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.
Oct 16, 2012
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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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A rare genetic disease which causes some parts of the body to grow excessively has been linked to a cancer-associated mutation that drives cell growth, potentially paving the way for new treatments. The research findings ...
Jun 25, 2012
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Human geneticists have long debated whether the genetic risk of the most common medical conditions derive from many rare mutations, each conferring a high degree of risk in different people, or common differences throughout ...
Mar 25, 2012
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(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
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A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision ...
Aug 31, 2011
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