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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Researchers from the Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), in collaboration with the Swiss Institute for Experimental Cancer Research (ISREC) have studied the mechanisms behind the greater ...
Feb 26, 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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A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia ...
Feb 24, 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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Variants of nine genes increase the risk of developing Addison's disease, a rare disease in which the immune system attacks the adrenal glands. That is according to the largest genetic study to date on patients with Addison's ...
Feb 11, 2021
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Pfizer, the first company to get U.S. emergency use authorization for a COVID-19 vaccine, swung to a small profit in the fourth-quarter as it started shipping vaccines globally.
Feb 2, 2021
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Scientists at the National Eye Institute (NEI) have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood. A form of Leber congenital amaurosis, the disease is caused by ...
Jan 28, 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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