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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Scientists have discovered that immune cells, known as microglia, help maintain the health of myelin—the insulating layer that forms around nerve cells—which is important for nerve cells in the brain and spinal cord to ...
Dec 14, 2022
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An international research team led by Dr. Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing ...
Dec 12, 2022
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Researchers at UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) have grown "mini eyes," which make it possible to study and better understand the development of blindness in a rare genetic disease called Usher ...
Nov 18, 2022
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An international study led by the medical Faculty of the University of Bonn has identified a gene that plays an important role in the development of the human embryo. If it is altered, malformations of various organ systems ...
Nov 15, 2022
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A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters.
Nov 12, 2022
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