A group of patients with a hereditary disorder have had their lives transformed by a single treatment of a breakthrough gene-editing therapy, according to the lead researcher of a trial published in the New England Journal ...
Feb 2, 2024
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Glaucoma is the leading cause of irreversible blindness around the globe, affecting up to 44 million people. Although people of African ancestry are most frequently and severely affected by this hereditary disease, its genetic ...
Jan 18, 2024
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ETH Zurich molecular biologist Mandy Boontanrart is researching gene therapies that could be used to cure two of the most common types of inherited anemia. She has now developed a promising approach for so-called beta-hemoglobinopathies. ...
Aug 2, 2023
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A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and diabetes. Scant and conflicting ...
Aug 1, 2022
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Genetic mutations which cause a debilitating hereditary kidney disease affecting children and young adults have been fixed in patient-derived kidney cells using a potentially game-changing DNA repair-kit. The advance, developed ...
Jul 29, 2022
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A new genetic discovery adds weight to a theory that motor neurone degenerative diseases are caused by abnormal lipid (fat) processing pathways inside brain cells. This theory will help pave the way to new diagnostic approaches ...
Jun 20, 2022
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Regular episodes of severe pains in the abdomen and mysterious swellings had become the new normal for Yuki—for 20 years. Finally, she was diagnosed with a rare disease, hereditary angioedema (HAE), and given a specialized ...
Apr 19, 2022
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Hereditary diseases as well as cancers and cardiovascular diseases may be associated with a phenomenon known as genomic imprinting, in which only the maternally or paternally inherited gene is active. An international research ...
Jan 12, 2022
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Tiny deviations in the body's cells can sometimes have severe consequences. Researchers from Berlin have discovered why cells from patients suffering from the rare muscular disease myotubular myopathy cannot function properly. ...
Jan 21, 2016
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Using a zebrafish model, investigators have identified a drug compound that appears to reverse arrhythmogenic cardiomyopathy (ACM), a hereditary disease and leading cause of sudden death in young people. The findings, led ...
Jun 11, 2014
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