Having a rare genetic disease is actually pretty common. Rare diseases affect approximately 1 in 10 individuals, and more than 30 million people in the U.S. have a rare disease diagnosis. What makes them rare is that these ...
If you believe a medical treatment was developed specifically for you, it may be more effective, especially if you want to be seen as unique, according to new research from McGill University.
Jul 13, 2023
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Advanced estrogen receptor-positive (ER+) breast cancer can be especially difficult to treat. A new study by researchers at Dartmouth Cancer Center led by Todd W. Miller, Ph.D., shows promise in using a combination of estrogen ...
Jul 13, 2023
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The United Nations Declaration of Human Rights that everyone has the right to life could as well be extended to include the right to an "elevated cholesterol-free life," an Opinion article by Dr. Andrew Agbaje of the University ...
Jun 28, 2023
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A Mayo Clinic study published in Journal of Translational Medicine has evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing ...
Jun 26, 2023
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Northwestern Medicine scientists have identified a novel vulnerability in a subset of genes commonly mutated in cancer, according to a study recently published in the Journal of Clinical Investigation.
Jun 26, 2023
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The American College of Medical Genetics and Genomics (ACMG) has released its highly anticipated 2023 update to the recommended minimum gene list for the reporting of secondary findings (SF): "ACMG SF v3.2 List for Reporting ...
Jun 22, 2023
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Spinocerebellar ataxias are a heterogeneous group of inherited diseases associated with degeneration of the cerebellum—a region at the back of the brain that plays an essential role in motor control. Patients have gait ...
Jun 21, 2023
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Celiac disease is a chronic disease that can't be cured, but treatment can help with symptoms.
Jun 15, 2023
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The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening. Pathogenic variants in the CFTR gene can cause cystic fibrosis (CF) as well as CF-related disorders. ...
Jun 13, 2023
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