Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic ...
Mar 16, 2023
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The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline. This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University ...
Mar 6, 2023
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Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic Medicine.
Feb 10, 2023
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Only one in 100,000 people suffer from a pheochromocytoma, a tumor of the adrenal gland. If the tumor has already metastasized, a radioactive compound can be used to detect malignant cells that have spread to other parts ...
Feb 9, 2023
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Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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A genetic mutation in the SPTSSA gene is identified as the cause of hereditary spastic paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study published ...
Jan 31, 2023
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A multi-disciplinary team of researchers has developed a way to monitor the progression of movement disorders using motion capture technology and AI.
Jan 22, 2023
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The work of Professor Fanny Mochel (AP-HP, Sorbonne University) at Paris Brain Institute, in collaboration with clinical research teams in eight countries and Spanish biotech Minoryx Therapeutics, has demonstrated the protective ...
Jan 20, 2023
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Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug. The study, ...
Jan 5, 2023
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The detection and management of inherited rare and serious conditions in routine care can be improved by genome sequencing, a new study involving the University of Aberdeen has found.
Dec 19, 2022
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