For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of ...
Aug 8, 2013
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More and more studies show that men face risks of cancer from BRCA1 and BRCA2 genetic mutations that are most often associated with breast and ovarian cancers in women.
Jul 26, 2024
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Though 1 in 2 people will develop some form of cancer in their lifetime, there's still much we don't know about this disease. But thanks to continued research efforts, we keep learning more about the biology of cancer. One ...
May 30, 2024
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UC Santa Barbara researchers and collaborators in Colombia, Brazil and Germany are progressing toward an understanding of mechanisms that underlie Alzheimer's disease, in particular an early-onset, genetic form that has afflicted ...
Feb 27, 2024
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As people age, the DNA in their cells begins to accumulate genetic mutations. Mosaic chromosomal alterations (mCAs), a category of mutations acquired in blood cells, are linked with a 10-fold increased risk of developing ...
Nov 1, 2023
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Researchers from Dana-Farber Cancer Institute, Brigham and Women's Hospital, and Medical University of Lodz have found a way to detect increased cancer risk associated with BRCA1 and BRCA2 mutations without genetic sequencing, ...
Jun 8, 2023
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Scientists have identified an autoinflammatory disease caused by mutations in the LYN gene, an important regulator of immune responses in health and disease. Named Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI), ...
Mar 28, 2023
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A research team has shown that commercially available rapid antigen tests can detect past and present variants of concern and has identified potential mutations that may impact test performance in the future. As new variants ...
Sep 15, 2022
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Researchers at the Center for Genomic Regulation (CRG) have identified a DNA sequence that is crucial for pancreatic differentiation and function—and for the first time—describe how it works.
Aug 22, 2022
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Researchers at Massachusetts General Hospital (MGH) who previously developed a blood test for mutations in a gene linked to gliomas, the most common type of adult brain tumors, have now applied their technology to detect ...
Jul 22, 2022
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