Although some rare genetic variants can increase the risk of disease markedly for a few individuals, the genetic contribution to common diseases is mostly due to a combination of many common genetic variants with small effects. ...
May 16, 2022
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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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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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Genes can indirectly influence the age at which girls have their first period by accelerating weight gain in childhood, a known risk factor for early puberty, a Cambridge-led study has found. Other genes can directly affect ...
Jul 1, 2024
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In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene—one from each parent—were ...
Aug 16, 2022
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An interdisciplinary research team led by Professor Jason Cheung Pui-yin from the Department of Orthopaedics and Traumatology, School of Clinical Medicine, has identified a common underlying cause of adolescent idiopathic ...
Feb 20, 2024
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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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The University of Oulu's Cardiology Research Group identified several rare genetic variants in victims of sudden death caused by hypertension- or obesity-related cardiac hypertrophy. The findings suggest that, in addition ...
Jun 2, 2021
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A team of researchers at Indiana University School of Medicine has developed specialized bioinformatics software designed to identify rare genetic variants in whole-genome sequencing studies. Zilin Li, Ph.D., assistant professor ...
Nov 8, 2022
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