With the help of cerebral organoids, IMBA scientists were able to ascertain that tuberous sclerosis, a rare neurodevelopmental genetic disorder, arises developmentally rather than only genetically. With these patient-derived ...
Jan 27, 2022
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A drug originally developed to prevent the rejection of transplanted organs has now been shown to dramatically reduce a particular kind of brain tumor in patients with tuberous sclerosis complex (TSC)—a genetic disease ...
Nov 13, 2012
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A new study in Neuron focuses on the role that a lack of the protein "CLOCK" plays in several forms of epilepsy. The study provides evidence that excessive excitation of specific brain cells may be due to a lack of CLOCK ...
Oct 11, 2017
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It's still unclear what's different in the brains of people with autism spectrum disorders (ASDs), but evidence from genetic and cell studies points to abnormalities in how brain cells (neurons) connect to each other. A study ...
Dec 5, 2011
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Tuberous sclerosis complex (TSC) afflicts as many as two million people around the world, affecting multiple organs, including lungs, brain, skin and kidneys. In about 80 percent of cases, it causes cysts and benign tumors ...
Feb 4, 2021
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In a new study published in the American Association of Cancer Research's journal Cancer Research, a pair of investigators at Rutgers and Columbia universities has identified a gene that may provide a new source of potential ...
Feb 18, 2016
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One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system.
Jan 22, 2016
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The gene p53 has been described as the "guardian of the genome" due to its prominent role in preventing genetic mutations. More than half of all cancers are thought to originate from p53 mutations or loss of function, and ...
Dec 14, 2015
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A Canadian research team has uncovered a new mechanism involved in Bourneville tuberous sclerosis (BTS), a genetic disease of childhood. The team hypothesizes that a mutation in the TSC1 gene causes neurodevelopmental disorders ...
Jun 23, 2021
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What if doctors could break down conditions like autism into their key symptoms, map these symptoms to "hotspots" in the brain, and then treat those areas directly with brain stimulation? If it bears out, such an approach ...
Mar 31, 2023
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