UNIVERSITY OF MONTREAL Researchers at CHU Sainte-Justine and Université de Montréal have discovered a new mechanism involved in the expression of Down syndrome, one of the main causes of intellectual disability and congenital heart defects in children. The study’s findings were published today in Current Biology. Down syndrome (SD), also called trisomy 21 syndrome, is...
Category: <span>Genetics</span>
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Vapers show chemical changes in their genome linked to cancer
by Keck School of Medicine Biologically important changes in DNA seen in smokers are also being found in people who vape, according to a new study published in the journal Epigenetics. A team of scientists at the Keck School of Medicine of USC have found people who vape exhibit similar chemical modifications in their overall...
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Physiological Roles of Klotho
What is Klotho? The klotho (kl) gene was identified as a regulator of normal ageing, where mutated forms led to accelerated ageing phenotypes. Therefore, klotho can be considered as an ‘ageing-suppressor’ gene. In ancient mythology, Klotho, or Clotho, was a daughter of the ancient Greek God Zeus and member of the three fates who was...
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Differences in lung cancer tumors found between East Asians and Europeans
by Bob Yirka , Medical Xpress A team of researchers from a host of institutions in Singapore and China has found that there are genetic differences between some lung cancer tumors in East Asians versus Europeans. In their paper published in the journal Nature Genetics, the group describes their analysis of tumors from East Asian...
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Mutation’s role in blood cancers revealed by ideal team-up
by Cold Spring Harbor Laboratory A genetic mutation that disrupts how DNA sends messages to the rest of a cell has been linked to a large number of blood cancers. Thanks to a collaboration between biologists at Cold Spring Harbor Laboratory (CSHL) and an oncologist at Memorial Sloan Kettering Cancer Center (MSKCC), we now know...
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New gene therapy method improves vision in mice with congenital blindness
TOHOKU UNIVERSITY Mice born blind have shown significant improvement in vision after undergoing a new gene therapy developed by a team of Japanese scientists The results were published on January 24th in Nature Communications. This new method is an alternative strategy of gene supplementation, which involves supplementing the defective gene, such as the ones that...
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Research team delivers breakthrough for leading cause of blindness
by Queen Mary, University of London Researchers have identified a new protein linked to age-related macular degeneration (AMD) that could offer new hope for the diagnosis and treatment of the disease, which affects over 1.5 million people in the UK alone. The research team, made up of scientists from Queen Mary University of London, the...
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‘Chromosome shattering’: Understanding chromothripsis in human cancer
by Vicky Hatch, European Molecular Biology Laboratory Researchers at Harvard Medical School and EMBL-EBI have carried out the largest analysis across cancer types of the newly discovered mutational phenomenon chromothripsis. This study is the largest of its kind to date, containing whole-genome sequencing (WGS) data from over 2600 tumors spanning 38 different types of cancer....
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U of T researchers discover intricate process of DNA repair in genome stability
UNIVERSITY OF TORONTO An elaborate system of filaments, liquid droplet dynamics and protein connectors enables the repair of some damaged DNA in the nuclei of cells, researchers at the University of Toronto have found. The findings further challenge the belief that broken DNA floats aimlessly — and highlight the value of cross-disciplinary research in biology...
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Chromatin organizes into 3D ‘forests’ in single cells
A single cell contains the genetic instructions for an entire organism. This genomic information is managed and processed by the complex machinery of chromatin — a mix of DNA and protein in chromosomes whose function and role in disease are of increasing interest to scientists and engineers. Using mathematical modeling and optical imaging, researchers funded...