Mutations are the changes in the DNA that gradually occur in human cells as they replicate, and the organism grows and ages. Some of these changes, particularly when they occur in genes, can be instrumental during the development ...
Apr 10, 2024
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Research by Victor Ambros, Ph.D., provides new insights into a recently identified class of neurodevelopmental disorders called Argonaute syndromes. Dr. Ambros and colleagues believe their Proceedings of the National Academy ...
Mar 25, 2024
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Scientists have developed a new screening tool to uncover how genetic changes affect gene activity and can lead to diseases such as cancer, autoimmunity, neurodegeneration and cardiovascular disease. This new tool enables ...
Feb 26, 2024
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Tremendous progress has been made over the last decade in identifying genes leading to autism spectrum disorders (ASD), especially for those who are severely affected. To date, however, these genetic insights have not translated ...
Dec 18, 2023
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Does the human brain have an Achilles heel that ultimately leads to autism? With a revolutionary novel system that combines brain organoid technology and intricate genetics, researchers can now comprehensively test the effect ...
Sep 13, 2023
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A cleft lip or palate arises from the combined effects of genes and inflammatory risk factors experienced during pregnancy, such as smoking or infections, finds a new study led by UCL researchers.
May 24, 2023
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Scientists at the University of Liverpool have figured out how mutations in a gene called FBXL4 can lead to an excess of mitophagy—the disposal of mitochondria, the 'power stations' within nearly all human cells.
May 4, 2023
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A successful gene therapy trialed at Michigan State University in dogs with an inherited eye disease is ready to be developed for clinical use in human patients with a rare condition called retinitis pigmentosa.
Apr 26, 2023
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Researchers from the National Institutes of Health (NIH) used computational modeling to uncover mutations in the human genome that likely influenced the evolution of human cognition. This groundbreaking research in human ...
Feb 15, 2023
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Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system. Patients with these conditions have facial abnormalities, such as cleft palate, and develop short-limb ...
Feb 15, 2023
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