Genetics
Researchers uncover how gene that increases heart disease risk works
Researchers have discovered how a gene that increases the risk of developing genetic heart disease functions, paving the way for new treatments.
Mar 1, 2023
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Page 10 - News tagged with disease mutation
Diabetes
Childhood obesity linked to increased risk of 4 of 5 newly proposed subtypes of adult-onset diabetes
New research published in Diabetologia is the first study to show that childhood obesity is associated with an increased risk of four of the five recently proposed subtypes of adult-onset diabetes. The study is by Yuxia Wei, ...
Feb 27, 2023
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Neuroscience
What is frontotemporal degeneration?
Frontotemporal degeneration (FTD) is a group of neurologic disorders associated with changes in personality, behavior, language or movement. Some FTD forms are inherited, and some are not. Typically, people develop FTD symptoms ...
Feb 20, 2023
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Genetics
How many babies die from genetic diseases because they're not tested? Too many, researchers say
Genetic diseases kill more infants than anyone realizes.
Feb 10, 2023
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Genetics
Rare genetic disease may protect Ashkenazi Jews against TB
Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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Genetics
Genetic mutation linked to hereditary spastic paraplegia
A genetic mutation in the SPTSSA gene is identified as the cause of hereditary spastic paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study published ...
Jan 31, 2023
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Alzheimer's disease & dementia
Alzheimer's: Blood biomarker may help identify the disease ten years before symptoms start
Though Alzheimer's disease affects more than 55 million people worldwide, there's still no cure for the condition—and treatment options are limited.
Jan 19, 2023
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Genetics
The 'guardian of the genome' protects against cardiovascular disease
A team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC), working in collaboration with institutes in the U.S., has demonstrated that acquired mutations in the gene encoding the protein p53 contribute to the ...
Jan 16, 2023
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Medical research
Drug can spur liver regeneration in Alagille syndrome
Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug. The study, ...
Jan 5, 2023
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Medical research
Genetically modified mice pave the way for customized medicine in a rare disease
An international research team led by Dr. Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing ...
Dec 12, 2022
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