Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic 'hand-wringing' movements, seizures, and cognitive ...
Oct 30, 2023
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Severe combined immunodeficiencies (SCIDs) are a group of debilitating primary immunodeficiency disorders, primarily caused by genetic mutations that disrupt T-cell development. SCID can also affect B-cell and natural killer ...
Oct 27, 2023
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Psoriasis—a chronic skin condition—is not caused or spread by spontaneous genetic mutations in the skin, new research suggests.
Oct 26, 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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Cancer research has long focused on targeting the genetic mutations that drive tumors. Many of these genetic changes affect genes that allow mutated cells to replicate out of control. While developing drugs to target these ...
Oct 16, 2023
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In a recent study led by Ravi Salgia, M.D., Ph.D., the Arthur & Rosalie Kaplan Chair in Medical Oncology, a team of researchers from City of Hope, one of the largest cancer research and treatment organizations in the United ...
Oct 14, 2023
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In a study, published in American Journal of Hematology, Mayo Clinic researchers examined telomere biology disorders, a group of rare genetic disorders characterized by short telomeres.
Oct 12, 2023
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African Americans have long been known to be at increased risk of kidney disease due to a dangerous genetic mutation that creates a hole in the kidney cells, but Vanderbilt University Medical Center (VUMC) researchers have ...
Oct 6, 2023
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Researchers have used CRISPR gene editing, stem cells and human neurons to study the impact of a gene that is commonly mutated in autism. This new study, published today in The American Journal of Human Genetics, ties mutations ...
Oct 5, 2023
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New research has identified a novel immunotherapy for acute myeloid leukemia. The study, published in Nature Cancer, describes a T-cell receptor that recognizes a mutation shared between a subgroup of patients with the disease. ...
Oct 2, 2023
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