Genetics
DNA changes accelerate body's aging process
DNA changes throughout a person's life can significantly increase their susceptibility to heart conditions and other age-related diseases, research suggests.
Sep 2, 2019
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Page 6 - News tagged with disease mutation
Neuroscience
Scientists identify gene that first slows, then accelerates, progression of ALS in mice
Columbia scientists have provided new insights into how mutations in a gene called TBK1 cause amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease that robs patients of movement, speech and ultimately, ...
Mar 27, 2020
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168
Parkinson's & Movement disorders
Molecular 'on-off' switch for Parkinson's disease discovered
(Medical Xpress) -- Scientists at the Medical Research Council (MRC) Protein Phosphorylation Unit at the University of Dundee have discovered a new molecular switch that acts to protect the brain from developing Parkinson's ...
May 23, 2012
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Medical research
Clinical trial shows antisense oligonucleotide safely suppresses mutant ALS gene in pilot human study
Using a short, synthetic chain of chemically modified nucleotides engineered in the RNA Therapeutics Institute at UMass Chan Medical School, Robert H. Brown Jr., DPhil, MD, Jonathan Watts, Ph.D., and colleagues have shown ...
Dec 23, 2021
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Genetics
Regulatory mutations missed in standard genetic screening lead to congenital diseases
Researchers have identified a type of genetic aberration to be the cause of certain neurodevelopmental disorders and congenital diseases, such as autism and congenital heart disease, which are undetectable by conventional ...
May 25, 2018
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Genetics
Study gives insight into cause of severe inflammatory bowel disease
Cedars-Sinai investigators have identified a genetic variant that increases people's risk of developing perianal Crohn's disease, the most debilitating manifestation of Crohn's disease.
Apr 20, 2023
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Genetics
Autoimmune diseases in ALS patients linked to genetic mutation
A study published today in the journal Nature could help explain why certain people who develop amyotrophic lateral sclerosis (ALS), a deadly neurological disorder also known as Lou Gehrig's disease, are prone to autoimmune ...
Aug 20, 2020
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234
Genetics
As population exploded, more rare genes entered human genome
(Medical Xpress) -- As the Earth's human population has skyrocketed since the rise of agriculture some 10,000 years ago -- to 7 billion people from a few million -- so, too, has the number of rare genetic variants.
May 11, 2012
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Neuroscience
Gut microbiome influences ALS outcomes
Harvard University scientists have identified a new gut-brain connection in the neurodegenerative disease amyotrophic lateral sclerosis, or ALS. The researchers found that in mice with a common ALS genetic mutation, changing ...
May 13, 2020
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Genetics
Rare VEXAS disease affecting only men is found to be more common than first thought
A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.
Mar 11, 2021
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