Diseases, Conditions, Syndromes
Rare genetic variant puts some younger men at risk of severe COVID-19
A study of young men with COVID-19 has revealed a genetic variant linked to disease severity.
Mar 23, 2021
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News tagged with rare genetic disease
Genetics
Rare VEXAS disease affecting only men is found to be more common than first thought
A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.
Mar 11, 2021
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35
Diseases, Conditions, Syndromes
RNA worked for COVID-19 vaccines. Could it be used to treat cancer and rare childhood diseases?
A few weeks ago, a group of Philadelphia scientists reported that they had injected mice with genetic instructions in the form of RNA, prompting the animals' cells to produce customized proteins.
Mar 9, 2021
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5
Genetics
Induced pluripotent stem cells reveal causes of disease
Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex, rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory ...
Mar 4, 2021
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66
Diseases, Conditions, Syndromes
'Never seen anything as effective' – the not-so-new-drug repurposed for a rare disease
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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7
Genetics
Overlooked cilium could be genetic key to common diseases
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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4
Genetics
First multi-whole-genome study of IBD in African Americans
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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2
Genetics
Large-scale study finds genetic testing technology falsely detects very rare variants
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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149
Genetics
Partners in crime: Genetic collaborator may influence severity of the rare disease, NGLY1
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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18
Genetics
DNA-editing method shows promise to treat mouse model of progeria
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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