Argininosuccinate lyase deficiency (ASLD), also known as argininosuccinic aciduria, is a severe metabolic disease where the body does not process proteins normally, instead resulting in a very dangerous accumulation of argininosuccinic ...
Apr 4, 2024
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Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition that results from an additional copy of chromosome 21.
Jan 24, 2024
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Researchers at Huntsman Cancer Institute at the University of Utah discovered that the level of blood and immune cells in mouse model offspring would fluctuate based on the amount of folic acid consumed by their mothers during ...
Dec 14, 2023
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Doctors report they are seeing what they think is a new syndrome in babies who are exposed to fentanyl while in the womb.
Dec 10, 2023
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Modulating the activity of a kinase in motor neurons may help mitigate mitochondrial defects and other symptoms of spinal muscular atrophy, offering a new therapeutic avenue for the devastating disease, according to a Northwestern ...
Dec 5, 2023
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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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A new study published in Nature Genetics led by the Mead Group in the Radcliffe Department of Medicine has demonstrated a previously unknown effect of chronic inflammation on TP53-mutant hematopoietic stem cells.
Sep 8, 2023
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Scientists have developed human embryo-like structures without using sperm, an egg or fertilization, offering hope for research on miscarriage and birth defects but also raising fresh ethical concerns.
Sep 7, 2023
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