University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked to certain neurodevelopmental disorders and intellectual disabilities. The researchers believe that finding genes involved ...
Jun 21, 2021
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In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing. But while the GRCh38 (hg38) human reference ...
Jun 14, 2021
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Researchers from the Hong Kong University of Science and Technology (HKUST) and Beijing Tiantan Hospital have recently uncovered a new gene mutation responsible for the non-familial patients of cerebral cavernous malformation ...
Jun 8, 2021
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By analyzing parts of the genome that do not code for proteins, researchers have identified seven variants linked to developmental disorders.
Jun 3, 2021
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New research from the University of Minnesota Medical School found mutations in a novel gene that may help identify patients with a specific form of muscular dystrophy.
Apr 15, 2021
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For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general European population. This is ...
Mar 19, 2021
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Mutations in the neurochondrin (NCDN) gene can cause epilepsy, neurodevelopmental delay and intellectual disability. The gene mutation significantly impairs contacts and signaling between neurons in the brain. This is the ...
Mar 19, 2021
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COVID-19 is only the latest infectious disease to have had an outsized impact on human life. A new study employing ancient human DNA reveals how tuberculosis has affected European populations over the past 2,000 years, specifically ...
Mar 4, 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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According to a new study published in the American Journal of Human Genetics, more than one third of genetic variants that increase the risk of coronary artery disease regulate the expression of genes in the liver. These ...
Feb 24, 2021
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