Tag: Genetics
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Mutation Unique to Childhood Kidney Cancer Discovered
A recent study led by Elizabeth Perlman, MD, discovered a new genetic mutation in the most common type of pediatric kidney cancer, Wilms tumor.
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How the Circadian Clock Controls Insulin and Blood Sugar Regulation in the Pancreas
Northwestern Medicine scientists pinpointed a master switch that orchestrates thousands of genetic pathways an internal body clock takes to dictate how and when our pancreas must produce insulin and control blood sugar.
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RNA Editing Technique Treats Severe Form of Muscular Dystrophy
An RNA editing technique called ‘exon skipping’ has shown preliminary success in treating a rare and severe form of muscular dystrophy that currently has no treatment.
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New Therapy Reduces Symptoms of Inherited Enzyme Deficiency
In a phase three clinical trial, a new enzyme replacement therapy resulted in a reduction in multiple disease-related symptoms in children and adults with lysosomal acid lipase deficiency.
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Regulating the First Step in Gene Expression
Northwestern Medicine scientists have identified the molecular machinery that releases paused gene expression, a finding that helps explain how important developmental genes jumpstart simultaneously.
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Data Mining DNA For Polycystic Ovary Syndrome Genes
In the first study of its kind, scientists using data mining techniques have identified a genetic susceptibility to polycystic ovary syndrome that appears to be unique to European women.
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Uncovering Genetic Factors in Leukemia
Northwestern Medicine scientists have discovered how a gene linked to leukemia functions, a finding that may have important implications for children with Down syndrome who have a higher risk of developing the blood cancer.
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Mechanisms Behind Mutations in Calcium Ion Channels and Immunodeficiency
Northwestern Medicine scientists investigated the mechanism behind a mutation in a calcium ion channel that leads to an immunodeficiency syndrome.
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Elucidating the Causes of Stillbirth Using Archived Samples
New research explores the causes of stillbirth by identifying genetic variations in tissue from archived samples, with the goal of identifying biomarkers that may be used in the future for prevention.
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McNally Testifies on Gene-Editing at Congressional Hearing
Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine, testified before the U.S. House of Representatives Subcommittee on Research and Technology about the science and ethics of genetically engineered human DNA.
