When 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.
Oct 19, 2023
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Patients with X-linked severe combined immunodeficiency disorder (SCID-X1), sometimes called "bubble boy disease," are born with a defective gene that prevents them from producing immune cells. Gene therapy from St. Jude ...
Oct 6, 2023
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Stanford Medicine investigators and their colleagues sifted through a jumble of genes implicated in neurodevelopmental disorders and identified dozens of disparate troublemakers with similar effects.
Sep 27, 2023
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Hematopoietic stem cells (HSCs) are rare cells found in the bone marrow that produce red blood cells, white blood cells, and platelets. Their correct functioning is indispensable for the growth and health of an organism. ...
Jul 10, 2023
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Scientists have discovered that the cells of early human embryos are often unable to repair damage to their DNA. The researchers say that this has important implications for the proposed use of gene editing techniques to ...
Jun 26, 2023
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In the quest to find the origin of the puzzling symptoms in four children, researchers from St. Anna Children's Cancer Research Institute, the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences ...
Jun 21, 2023
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By 2050, one in 10 individuals are expected to live with some form of hearing loss. Of the hundreds of millions of cases of hearing loss affecting individuals worldwide, genetic hearing loss is often the most difficult to ...
May 26, 2023
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Rare diseases are often caused by defects in genetic material. If children inherit a defective gene from only one parent, they often are asymptomatic "carriers"—or at least that was the previous assumption. However, a research ...
May 23, 2023
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New research has discovered that some patients with motor neuron disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.
May 9, 2023
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Scientists at the University of Liverpool have figured out how mutations in a gene called FBXL4 can lead to an excess of mitophagy—the disposal of mitochondria, the 'power stations' within nearly all human cells.
May 4, 2023
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