Every human's genome has millions of genetic variants, but most have little to no effect, making it difficult for clinicians to make medical diagnoses based on genetic differences.
Dec 7, 2023
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The advent of whole genome sequencing technology has prompted an explosion in research into how genetics are associated with disease risk. But the vast majority of genetics research has been done on people of European ancestry, ...
Nov 15, 2023
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Many hidden genetic variations can be detected with Chameleolyser, a new method developed in Nijmegen. The information is already yielding new patient diagnoses and may also lead to the discovery of as yet unknown disease ...
Nov 1, 2023
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Research published in Nature provides new insight into human disease by studying how rare changes in genes affect proteins found in human blood, called plasma proteins. Findings revealed thousands of never-before-identified ...
Oct 9, 2023
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There are still many enigmas about the mechanism of action of the CERKL gene, which causes retinitis pigmentosa and other hereditary vision diseases. Now, a team from the University of Barcelona has described how the lack ...
Sep 18, 2023
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Primary ciliary dyskenisia (PCD) is a rare genetic disease that causes the tiny hair-like filtration structures in the respiratory tract to stop working. As a result, the lungs accumulate thick mucus and become more susceptible ...
Sep 12, 2023
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Infertility can have genetic causes, but pinpointing the culprit mutations is difficult because fertility and reproduction are controlled by many genes. These genes also carry many harmless but suspicious mutations in different ...
Aug 25, 2023
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A gene variant found almost exclusively in the genomes of people of African ancestry increases the risk of developing Parkinson's disease, according to an international study of nearly 198,000 participants with this genetic ...
Aug 24, 2023
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When Dr. Bodo Beck first saw the three children of a family who had fled Syria sitting in his consultation room at University Hospital Cologne, the human geneticist was surprised. His genetic analysis diagnosed Bartter syndrome ...
Aug 23, 2023
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Having a rare genetic disease is actually pretty common. Rare diseases affect approximately 1 in 10 individuals, and more than 30 million people in the U.S. have a rare disease diagnosis. What makes them rare is that these ...
