Tag: Gene

New Hereditary Mutation Identified to Increase Pancreatic Cancer Risk

While studying a cancer-prone family, scientists have identified an inherited gene mutation that considerably enhances the risk of pancreatic and other cancers. The previously unknown mutation was defined in Nature Genetics by researchers at Dana-Farber/Brigham and Women’s Cancer Center. The discovery could lead to the routine testing of those with a family history of pancreatic cancers to uncover the mutation known as RABL3. If the mutation is identified, pancreatic cancers may be diagnosed earlier and in a stage that is much more treatable.

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New Immunodeficiency Disease Identified

The investigation of an infant suffering from a combination of debilitating conditions including inflammatory bowel disease, cytomegalovirus (CMV) infection, lung disease, eczema, and food allergies, has brought to light a new immunodeficiency disease. Researchers at the University of Colorado Anschutz Medical Campus say the disease is caused by a genetic mutation and it presents rare insights into cell biology. The Journal of Experimental Medicine published their findings last week.

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Polycythemia Vera

Polycythemia vera (PV) is a myeloproliferative neoplasm and is characterized by the presence of an unusually high number of red blood cells in the body. A higher concentration of white blood cells and platelets may also be a factor in people with this condition. In PV patients, the blood is thicker than normal, causing slow blood flow and poor oxygenation. The primary complication of PV is the increased risk for thrombotic events (blood clots).

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