Best vitelliform macular degeneration, or Best disease, is an inherited eye condition that typically leads to blindness over the course of a few decades. The disease can be caused by more than two hundred mutations in the ...
Jul 31, 2020
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Yulan Xiong, assistant professor of neuroscience at UConn Health, and her team have discovered that a regulator compound holds the potential to treat Parkinson's disease.
Aug 1, 2023
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UCLA researchers led by Dr. Donald Kohn have created a method for modifying blood stem cells to reverse the genetic mutation that causes a life-threatening autoimmune syndrome called IPEX. The gene therapy, which was tested ...
Jan 11, 2019
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A team of researchers from several institutions in the U.S. has unveiled the evolutionary process that transformed a common type of human gut bacteria into a deadly infectious agent. In their paper published in Science Translational ...
A team of researchers from Shanghai Jiao Tong University and Novogene Bioinformatics Institute reports an association between de novo genetic mutations and obsessive-compulsive disorder (OCD). In their paper published in ...
Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...
Oct 3, 2019
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Researchers at the University of East Anglia have solved an 80-year-old medical mystery of the cause of kidney damage in children, which can be fatal in babies.
Jan 25, 2023
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Until very recently, Parkinson's had been thought a disease that starts in the brain, destroying motion centers and resulting in the tremors and loss of movement. New research published this week in the journal Brain, shows ...
Mar 21, 2018
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Mount Sinai Researchers have just discovered that patients in the Ashkenazi Jewish population with Crohn's disease (a chronic inflammatory of the digestive system) are more likely to carry the LRRK2 gene mutation. This gene ...
Jan 11, 2018
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EPFL scientists have made the first link between muscular dystrophy and a group of bioactive fats, the sphingolipids, which are involved in numerous cell functions and other diseases.
Jan 28, 2022
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