Consider for a moment that your life is dominated by spontaneous nosebleeds, chronic stomach hemorrhaging, persistent anemia and a complex constellation of other manifestations, some potentially life-threatening.
Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
Rett syndrome, a rare genetic disorder that causes mental retardation, autism, and physical deformities, has no cure. However, a small clinical trial has found that a growth factor known as IGF1 can help treat some symptoms ...
Jun 23, 2014
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Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The ...
Apr 25, 2024
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A new study led by Indiana University School of Medicine researchers has found that a brain network condition called "explosive synchronization" could be the cause of extreme pain crises in people with sickle cell disease.
Apr 24, 2024
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In a proof-of-concept study, researchers demonstrated the effectiveness of a potential new therapy for Timothy syndrome, an often life-threatening and rare genetic disorder that affects a wide range of bodily systems, leading ...
Apr 24, 2024
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Metachromatic leukodystrophy is a rare genetic disorder that mainly affects young children and results in severe neurological symptoms accompanied by a loss of motor and intellectual capacities. At Paris Brain Institute, ...
Apr 22, 2024
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Researchers from the Germans Trias i Pujol Research Institute (IGTP) have made progress in exploring potential treatments for skin tumors associated with neurofibromatosis type 1. Their findings in cell models have been published ...
Feb 13, 2024
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An investigational drug, encaleret, restored calcium levels in people with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic disorder marked by an imbalance of calcium in the blood and urine, as well as abnormally ...
Oct 13, 2023
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Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chatter. The study helps find a better drug target for the Angelman syndrome treatment.
Sep 14, 2023
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