Wilson disease (copper storage disease) is a rare genetic disorder in which one or more genetic mutations disrupt copper metabolism in the liver. At some point, the liver becomes incapable of eliminating copper with bile, ...
Feb 26, 2019
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Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, ...
Apr 9, 2015
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Researchers at The Australian National University (ANU) have discovered a new genetic disease and a method for detecting more unexplained medical conditions.
Oct 18, 2018
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Statins are the most commonly used medication in lowering blood cholesterol, prescribed to tens of millions in the Western world. Statins act through inhibition of the enzyme HMG CoA reductase. Nearly 20% of statin users ...
Mar 21, 2023
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Scientists have discovered a new cellular pathway that can promote and support the growth of cancer cells. In a mouse model of melanoma, blocking this pathway resulted in reduction of tumor growth. The study, which appears ...
Jun 15, 2017
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When she was just 12, Julie Breneiser had her first skin cancer removed and three large tumors carved out of her jawbone. Since then she has undergone surgeries for two more jaw growths and many, many more basal cell carcinomas—"hundreds, ...
Oct 5, 2016
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Pharmaceutical companies developing Orphan Drugs are increasingly partnering with direct-to-consumer (DTC) genetic testing firms to identify individuals with rare diseases, in a trend that is raising concerns related to privacy, ...
Sep 27, 2017
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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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Improving knowledge of Schaaf-Yang syndrome (SYS), an ultra-rare disease caused by mutations in the MAGEL2 gene, is the aim of the first clinical guideline aimed at health care professionals and families of children affected ...
Oct 26, 2022
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A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020.
May 4, 2017
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