The research groups of Jeroen Bakkers (Hubrecht Institute/UMC Utrecht) and Toon van Veen (UMC Utrecht) report the first patient-specific model for the heart disease arrhythmogenic cardiomyopathy (ACM). They were able to simulate ...
Dec 9, 2021
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68
When immune cells move throughout the brain, they act as the first line of defense against viruses, toxic materials and damaged neurons, rushing over to clear out them.
Nov 6, 2021
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143
Autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder, causes fluid-filled cysts to develop on the kidneys, which can impair their function. As part of the growth of cysts, the kidneys develop inflammation ...
Oct 13, 2021
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76
When people think about the connection between genes and disease, they often envision something that works like a light switch: When the gene is normal, the person carrying it does not have the disease. If it gets mutated, ...
Aug 26, 2021
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162
The absence of a protein that activates the body's antiviral defenses can cause a rare rheumatoid-like autoinflammatory condition that is treatable with an FDA-approved class of drugs known as TNF (tumor necrosis factor) ...
Aug 19, 2021
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186
In one type of a rare, inherited genetic disorder that affects control of body movement, scientists have found a mutation in an enzyme impairs communication between neurons and what should be the inherent ability to pick ...
Aug 17, 2021
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380
For the first time, Princess Margaret researchers have mapped out where and how leukemia begins and develops in infants with Down syndrome in preclinical models, paving the way to potentially prevent this cancer in the future.
Jul 8, 2021
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260
The neocortex is a layered structure of the brain in which neurons are arranged parallel to each other. This organization is critical for healthy brain function. A team of researchers from Charité - Universitätsmedizin ...
Jul 6, 2021
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151
Osteogenesis imperfecta (OI) is the most common genetic form of brittle bone disease and results in defects of both bone and connective tissue. OI patients can have significant problems with mobility due to joint dysfunction ...
Jun 14, 2021
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17
Patients who, perhaps unbeknownst to their health care providers, are in need of genetic testing for rare undiagnosed diseases can be identified en masse based on routine information in electronic health records (EHRs), a ...
Jun 3, 2021
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