The earliest signs of alkaptonuria are often subtle and harmless, like a diaper stained black. However, over the years, this rare genetic disease can lead to a lifetime of surgery. Now, after 20 years of research, a not-so-new ...
Mar 1, 2021
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Until recently, scientists believed that the primary cilium—an antenna-like structure found on the surface of most human cells—was largely vestigial and had little bearing on the day-to-day lives of human beings. But ...
Feb 25, 2021
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In African Americans, the genetic risk landscape for inflammatory bowel disease (IBD) is very different from that of people with European ancestry, according to results of the first whole-genome study of IBD in African Americans. ...
Feb 19, 2021
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A technology that is widely used by commercial genetic testing companies is "extremely unreliable" in detecting very rare variants, meaning results suggesting individuals carry rare disease-causing genetic variants are usually ...
Feb 15, 2021
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In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to ...
Jan 27, 2021
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Researchers have successfully used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and can ...
Jan 6, 2021
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In a paper published today in the American Journal of Human Genetics, a group of international collaborators led by researchers from the University of Pittsburgh School of Medicine identified new genetic associations that ...
Dec 11, 2020
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The first drug was approved Friday for a rare genetic disorder that stunts growth and causes rapid aging in children, after studies showed it can extend their lives.
Nov 21, 2020
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A rare genetic condition which causes inflammatory bowel disease can be successfully treated by bone marrow transplant, according to University of Manchester and Manchester University NHS Foundation Trust researchers.
Oct 13, 2020
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Zellweger syndrome is a rare disease which at its mildest form can cause developmental delays in childhood and vision and hearing loss in adulthood. At its most severe, it can mean weak muscle tone, feeding and respiratory ...
Sep 30, 2020
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