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Genetics news
Genetics
Biodistribution of AAV gene transfer vectors in nonhuman primate
The biodistribution of adeno-associated virus (AAV) gene transfer vectors can be measured in nonhuman primates using a new method. The method quantifies whole-body and organ-specific AAV capsids from 1 to 72 hours after administration. ...
Jan 15, 2021
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Genetics
Even skin shielded from the sun accumulates genomic DNA changes from UV light
For the first time, scientists have measured the different types of genomic DNA changes that occur in skin cells, finding that mutations from ultraviolet (UV) light is especially common, but Black individuals have lower levels ...
Jan 14, 2021
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Cancer research reveals how mutations in a specific gene cause different types of disease
Leading cancer experts at the University of Birmingham have solved a long-standing question of how various types of mutations in just one gene cause different types of diseases.
Jan 14, 2021
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Tiny molecules with a big impact
The human organism requires a variety of small molecules, such as sugars or fats, in order to function properly. The composition of these so-called metabolites and their interaction—the metabolism—varies from person to ...
Jan 13, 2021
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Study finds neglected mutations may play important role in autism spectrum disorder
Mutations that occur in certain DNA regions, called tandem repeats, may play a significant role in autism spectrum disorders, according to research led by Melissa Gymrek, assistant professor in the UC San Diego Department ...
Jan 13, 2021
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Inferring human genomes at a fraction of the cost promises to boost biomedical research
Thousands of genetic markers have already been robustly associated with complex human traits, such as Alzheimer's disease, cancer, obesity, or height. To discover these associations, researchers need to compare the genomes ...
Jan 13, 2021
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Ukraine genome survey adds missing pieces to human diversity puzzle
Today, the largest study of genetic diversity in Ukraine was published in the open science journal GigaScience. The project was an international effort, bringing together researchers in Ukraine, the US and China and is the ...
Jan 13, 2021
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Midwife's research features in new national guidance on drinking during pregnancy
As thousands of people are committing to giving up alcohol during Dry January, research from a midwifery lecturer at Northumbria University has been included in new national guidance on the harms of consuming alcohol both ...
Jan 13, 2021
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New molecular structures associated with ALS
Researchers from the University of Seville and the University of Pavia have identified a link between Amyotrophic Lateral Sclerosis (ALS) and the accumulation of DNA-RNA hybrids in the genome. The accumulation of these hybrids ...
Jan 13, 2021
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Immune system killer cells controlled by circadian rhythms
An analysis of an exhaustive dataset on cells essential to the mammalian immune system shows that our ability to fight disease may rely more heavily on daily circadian cycles than previously assumed.
Jan 12, 2021
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Using DNA sequencing data with electronic health records to find rare variants behind inherited diseases
A large team of researchers affiliated with a large number of institutions in the U.S. has used DNA sequencing data and information stored in electronic health record databases to search for rare genetic variants that may ...

COVID-19 transmission chains in the UK accurately traced using genomic epidemiology
A team of scientists, led by researchers from the Universities of Oxford and Edinburgh, has analysed the first wave of the COVID-19 outbreak in the UK and produced the most fine-scaled and comprehensive genomic analysis of ...
Jan 12, 2021
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Genetics reveals the link between blood insulin and gender: one size doesn't fit all
The diverse impact of the genetic makeup in men and women on levels of fasting blood insulin has been identified for the first time in the largest international study of its kind.
Jan 12, 2021
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Researchers identify new gene involved in breast cancer growth
A team of UT Southwestern researchers has identified a gene involved in the growth of breast cancer, a finding that could lead to potential new targets for treatment.
Jan 12, 2021
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New taxonomy of non-skeletal rare disorders with impact on bone
Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives. With this progress it has become apparent that many ...
Jan 12, 2021
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Advances in understanding autism, based on "mosaic" mutations
Two studies in today's Nature Neuroscience, led by researchers at Boston Children's Hospital, Brigham and Women's Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development ...
Jan 11, 2021
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COVID-19 drug prospects boosted by discovery of short form of coronavirus's 'entry point'
A shadow over the promising inhaled interferon beta COVID-19 therapy has been cleared with the discovery that although it appears to increase levels of ACE2 protein—coronavirus' key entry point into nose and lung cells—it ...
Jan 11, 2021
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How the circadian clock regulates liver genes in time and space
Nothing in biology is static. Biological processes fluctuate over time, and if we are to put together an accurate picture of cells, tissues, organs etc., we have to take into account their temporal patterns. In fact, this ...
Jan 11, 2021
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New insights on the role of the MLL4 gene in Kabuki syndrome
Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder.
Jan 11, 2021
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Biomarkers in fathers' sperm linked to offspring autism
Biomarkers in human sperm have been identified that can indicate a propensity to father children with autism spectrum disorder. These biomarkers are epigenetic, meaning they involve changes to molecular factors that regulate ...
Jan 11, 2021
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