Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, a breakthrough expected to advance research, improve the diagnosis of genetic diseases and make personalized ...
Aug 6, 2026
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About 2 meters (6.6 feet) of genetic material must fit into the nucleus of each of most of our trillions of cells, coiling and winding to form what looks like a tangled mess. But when genes are used, how they are used and ...
Aug 6, 2026
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To study complex diseases like Alzheimer's, scientists and clinicians analyze how genes change and malfunction in other species. Marmosets, a species of tiny monkey from South America, have become an important animal model ...
Aug 6, 2026
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Inherited bone marrow failure syndrome, or IBMFS, describes a group of disorders in which inherited genetic abnormalities impair the bone marrow's ability to produce sufficient healthy blood cells. Patients with these disorders ...
Aug 6, 2026
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A new study from the laboratory of Gemma Carvill, Ph.D., associate professor in the Ken and Ruth Davee Department of Neurology's Division of Epilepsy and Clinical Neurophysiology, has uncovered variants in noncoding regulatory ...
Aug 6, 2026
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Dr. Stacy Norton was only 7 years old when her mother died of colon cancer, one of several family members struck by aggressive tumors at unusually young ages. Decades later, Norton rolled up her sleeve to help test if a new ...
Aug 6, 2026
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A new open resource of cancer models has enabled researchers to create the first large-scale map of the genes that cancers rely on to survive, offering new avenues for research into better and less toxic treatments for patients.
Aug 5, 2026
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Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research ...
Aug 5, 2026
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Children born with a pathogenic variant in the TP53 gene, known as Li-Fraumeni syndrome, have a markedly increased risk of developing various types of cancer, often at a young age. Therefore, they undergo regular surveillance ...
Aug 5, 2026
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A new study co-led by professor Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, published in Nature Genetics, uncovers how the three-dimensional organization of DNA in rare immune cells ...
Aug 4, 2026
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