Pathogenic variants in BRCA1/2 genes are associated with an increased risk of breast and ovarian cancer in adults, and variants in mismatch repair (MMR) genes increase the risk of gastrointestinal and other cancers. Until ...
Aug 24, 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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Your genes play a role in nearly all areas of your health. A gene is like an instruction manual for your body that tells your body how to function, develop and stay healthy. People have about 20,000 genes in their bodies.
Jul 29, 2022
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Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing ...
Jul 28, 2022
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Telling a child about their mother's risk of hereditary breast and ovarian cancer does not adversely influence the offspring's lifestyle or quality of life in the long term, according to a new study led by researchers at ...
Jul 21, 2022
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An international team of researchers led by UC Davis geneticist Suma Shankar has discovered a new gene implicated in a neurodevelopmental condition called DPH5-related diphthamide-deficiency syndrome. The syndrome is caused ...
Jul 12, 2022
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When patients are admitted to an intensive-care unit, health practitioners provide treatment based on the signs and symptoms they observe. This approach does not necessarily include understanding the definite causes behind ...
Jun 30, 2022
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When diagnostic tests for the heart were first created, scientists at the time did not fully consider that no two bodies are the same, especially between the sexes.
Jun 23, 2022
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Inherited mutations in the BRCA1 gene can significantly increase a person's risk of breast and ovarian cancer—but not every mutation in the gene is harmful. To better equip patients and their doctors to understand and manage ...
Jun 3, 2022
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Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The ...
May 23, 2022
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