Researchers have identified how a single mutation in the GPX4 enzyme causes neurons to undergo ferroptosis, leading to severe early-onset dementia.
Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into ...
Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in NY due to a trio of ...
Several members of the American Society of Hematology (ASH) have discovered a single point mutation in the JAK2 gene that is expressed in a high percentage of patients with one of three ...
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Indian researchers reveal novel mutation that causes rare condition among consanguineous children
Indian researchers identify a novel USP18 gene mutation linked to pseudo-TORCH syndrome, aiding treatment for affected ...
Australian researchers say they have identified a gene mutation that causes the skin disease psoriasis. A chronic inflammatory condition, psoriasis causes red, scaly, itchy patches on the skin. Some ...
Scientists have discovered the specific genetic mutation that causes a child's brain to deteriorate, resulting in severe ...
Researchers at the University of Sussex have discovered a new genetic defect which causes a form of intellectual disability; a finding that will improve screening programmes and help to end a ...
New research by a large international consortium has identified numerous gene variants associated with increased risk of photosensitivity in epilepsy 1. Photosensitivity, defined as an abnormal brain ...
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