Category: <span>Genetics</span>

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Study identifies genetic cause for some brain tumors
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Study identifies genetic cause for some brain tumors

by Olivia Dimmer, Northwestern University Multiplex immunofluorescence staining and imaging using the COMET system platform on a human meningioma patient sample, showing SSTR2+ tumor cells (in red), expressing the hedgehog pathway activation marker sonic hedgehog (SHH, in cyan blue). Credit: Hinda NajemScientists have uncovered a genetic explanation for one subset of common brain tumors, according to...

A large international study of migraine reveals new biological pathways for treatment
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A large international study of migraine reveals new biological pathways for treatment

by deCODE genetics Credit: Pixabay/CC0 Public DomainA large international study led by deCODE Genetics on the genetics of migraine provides novel insights into the biology of migraine enabling detection of rare variants protecting against migraine, opening an avenue for potential development of novel drug targets. In a study published in Nature Genetics a group of...

Researchers pursue three gene therapies for rare inherited disease
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Researchers pursue three gene therapies for rare inherited disease

by Catherine Caruso, Harvard Medical School Credit: Pixabay/CC0 Public DomainWhen neurobiologist David Corey showed up at a rare disease conference in 2017, he had no idea that he would enter a race against time to develop a treatment for it. The conference was for Usher syndrome type 1F. Patients with this condition have a gene mutation...

Two sisters’ genetic puzzle leads to potential breakthrough in our understanding of Parkinson’s disease
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Two sisters’ genetic puzzle leads to potential breakthrough in our understanding of Parkinson’s disease

byEric W. Dolan October 22, 2023 In a groundbreaking discovery published in the journal Neuron, scientists have challenged a long-held belief about the origins of Parkinson’s disease, shedding new light on this debilitating neurological condition. Their research suggests that the malfunctioning of synapses, the tiny gaps that allow neurons to communicate with each other, might...

Gene editing system restores dystrophin function in stem cells from patients with Duchenne muscular dystrophy
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Gene editing system restores dystrophin function in stem cells from patients with Duchenne muscular dystrophy

by Cell Press This photo shows green dystrophin protein restored by dual-Cas3 in skeletal muscle derived from DMD patient iPSCs. Credit: Akitsu HottaDuchenne muscular dystrophy (DMD) is a muscle degeneration disorder caused by mutations affecting the dystrophin gene. On August 24 in the journal Stem Cell Reports, researchers show how a dual CRISPR RNA method...

Scientists Spot Genes Linked to Raynaud’s Phenomenon
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Scientists Spot Genes Linked to Raynaud’s Phenomenon

(Adobe Stock) Scientists have discovered two genes that may trigger Raynaud’s phenomenon, a condition that can cause fingers and toes to go cold and numb because of the constriction of tiny blood vessels under the skin. “We identify two distinct genes that point to two distinct mechanisms,” lead researcher Maik Pietzner, chair in health data...

Researchers design gene therapy that can effectively target glioblastoma
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Researchers design gene therapy that can effectively target glioblastoma

by Brigham and Women’s Hospital Glioblastoma (histology slide). Credit: Wikipedia/CC BY-SA 3.0Glioblastoma (GBM), an aggressive brain cancer, is notoriously resistant to treatment, with recurrent GBM associated with survival of less than 10 months. Immunotherapies, which mobilize the body’s immune defenses against a cancer, have not been effective for GBM, in part because the tumor’s surrounding environment...

Gene therapy study identifies potential new treatment for liver cancer
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Gene therapy study identifies potential new treatment for liver cancer

by UC Davis Graphical Abstract. Credit: Molecular Therapy (2023). DOI: 10.1016/j.ymthe.2023.04.019 Gene therapy that induces the body to create microRNA-22 (miR-22), a naturally occurring molecule, successfully treated mice with hepatocellular carcinoma, the most common form of liver cancer. The miR-22 treatment also reduced liver inflammation and produced better survival outcomes with no observable toxicity compared...

Mutation puts women at higher risk of heart failure
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Mutation puts women at higher risk of heart failure

by Janosch Deeg, Max Delbrück Center for Molecular Medicine Cardiomyocytes with stained mitochondria (red), sarcomeres (green) and nuclei (blue). Credit: Klaassen Lab, Max Delbrück CenterWhen the PRDM16 gene mutates, heart muscle cells undergo changes in their metabolism. This increases the risk of congenital heart failure in women more than men, as a ECRC research team led...

Scientists identify new pathway activated by interferon-gamma that leads to tumor cell death
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Scientists identify new pathway activated by interferon-gamma that leads to tumor cell death

by Denise Heady, University of California, Los Angeles Drug screening identifies RAF and ERK as the mediators of IFNγ-induced growth inhibition. (A) Workflow for the drug screen. The orange dots on the Z-score plot indicate expected hits that rescue IFNγ-mediated growth inhibition but do not affect cell growth in the absence of IFNγ. (B) Z-score plot...