A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain—which causes this newly discovered ...
Oct 2, 2020
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Dr. David Weinstein and his team at UConn Health have administered to a patient the world's first investigational gene therapy for potentially deadly glycogen storage disease (GSD).
Jul 27, 2018
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Scientists are a step closer to understanding which genes are responsible for early onset Alzheimer's disease in people with Down syndrome, thanks to a new study led by researchers at the Francis Crick Institute and UCL along ...
Jun 25, 2018
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A new study has found that an Inuit population in Canada's Arctic are genetically distinct from any known group, and certain genetic variants are correlated with brain aneurysm.
Jul 22, 2019
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As people get older, their neural stem cells lose the ability to proliferate and produce new neurons, leading to a decline in memory function. Researchers at the University of Zurich have now discovered a mechanism linked ...
Feb 24, 2021
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A group of researchers has found that three siblings born with cleft lip and palate share a common gene mutation associated with the birth defect.
Mar 21, 2017
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Parents of newborns may be familiar with the metabolic disorder phenylketonuria—in Switzerland, all newborn babies are screened for this genetic disease. Children found to have phenylketonuria need a special diet so that ...
Oct 8, 2018
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Fragile X syndrome, or FXS, a leading genetic cause of autism, affects around one in 4,000 males and one in 6,000 females. Its symptoms include increased anxiety, intellectual disability, repetitive behaviors, social communication ...
Dec 13, 2021
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Female populations have been larger than male populations throughout human history, according to research published today in the open access journal Investigative Genetics. The research used a new technique to obtain higher ...
Sep 23, 2014
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New research, which has been published today in the EMBO Journal, could suggest a new way of preventing heart failure in older patients.
Feb 11, 2019
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