(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
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Scientists at Rutgers University-Newark have discovered that when a key protein needed to generate new brain cells during prenatal and early childhood development is missing, part of the brain goes haywire—causing an imbalance ...
Jan 9, 2020
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Families living with four extremely rare neurodegenerative diseases have finally learned the cause of their illnesses, thanks to a researcher's hunch and decades of improvements in DNA sequencing technology.
Jul 22, 2019
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The most common mutation in the human genome is the C>T mutation, which causes half of all genetic diseases resulting from point mutations. For example, the one causing Hutchinson-Gilford progeria syndrome, a genetic disease ...
Jun 2, 2022
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Researchers at the UCLA stem cell center and the departments of chemistry and biochemistry and pathology and laboratory medicine have identified, for the first time, a generic way to correct mutations in human mitochondrial ...
Mar 12, 2012
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While cancer is a genetic disease, the genetic component is just one piece of the puzzle—and researchers need to consider environmental and metabolic factors as well, according to a research review by a leading expert at ...
Apr 21, 2022
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Amyotrophic lateral sclerosis (ALS; also known as Lou Gehrig's disease) is an incurable adult neurodegenerative disorder that progresses to paralysis and death. Genetic mutations are the cause of disease in 5% of patients ...
Dec 12, 2011
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A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and diabetes. Scant and conflicting ...
Aug 1, 2022
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New research published by neurology researchers from the University of Alabama at Birmingham in npj Parkinson's Disease found that preventable risk factors play a significant role in a person's potential of developing Parkinson's ...
Dec 15, 2023
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For the first time researchers have identified a gene which shows the kidney has its own way of resisting damage.
Dec 22, 2021
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