The brain contains many cell types, from the prominent neurons to the lesser-known microglia. The latter are integral to the brain's immune system and play a crucial role as the brain's cleanup crew. A recent study conducted ...
Jul 26, 2024
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A breakthrough genetic discovery from researchers at the Schulich School of Medicine & Dentistry at the University of Western Ontario is unlocking new clues about why some individuals experience early onset of neurodegenerative ...
Nov 29, 2021
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Vision scientists long have thought that lack of very long chain fatty acids in photoreceptor cells caused blindness in children with Stargardt type 3 retinal degeneration, an incurable eye disease. But researchers at the ...
Mar 11, 2013
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A unique collaboration among Shriners Hospital for Children – Canada, CHU Sainte-Justine and McGill University has enabled researchers to identify genetic mutations involved in a rare disease that causes scoliosis and bone ...
Nov 3, 2017
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Sickle cell disease, while rare, is the most common inherited blood disorder and affects over 100,000 people in the United States, more than 90% of whom are Black according to the Centers for Disease Control and Prevention. ...
Jul 31, 2024
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UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called ...
Feb 6, 2012
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(HealthDay)—HFE p.C282Y homozygosity, the most common gene mutation causing hereditary hemochromatosis (type 1), is associated with other morbidity in men and women, according to a study published online Jan. 16 in The ...
Jan 17, 2019
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Scientists at A*STAR's Genome Institute of Singapore (GIS) have developed a new technique that simplifies the task of identifying the precise DNA mutations that cause disease, which lays the groundwork for the development ...
Apr 6, 2015
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Neurodegenerative diseases, like Huntington's disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length ...
Feb 27, 2020
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A new CRISPR gene-editing technique prevented a genetic liver disease known to be driven by hundreds of different mutations and improved clinical symptoms in mice, Penn Medicine researchers reported in new proof-of-concept ...
Feb 12, 2020
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