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 ...
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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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Using a novel methodology, researchers at The Hospital for Sick Children (SickKids) are the first in pediatric research to use data from an international real-world cohort to overcome the barriers associated with conducting ...
Feb 29, 2024
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Purdue University researchers have developed a patented therapeutic strategy for Lowe syndrome, an incurable and rare genetic disorder, by repurposing two drugs previously approved by the U.S. Food and Drug Administration ...
Feb 29, 2024
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Researchers from the UCLA Health Jonsson Comprehensive Cancer Center have shown for the first time that a gene usually linked to giant axonal neuropathy, a rare and severe neurological condition, also plays a role in inhibiting ...
Feb 29, 2024
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In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, ...
Feb 19, 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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