A small pilot clinical study at the National Eye Institute (NEI) suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B (OCA-1B), a rare genetic disease that causes ...
Feb 20, 2019
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By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The ...
Oct 31, 2012
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Is obesity a ciliopathy, a disorder such as polycystic kidney disease (PKD), which is triggered by a defect in the microscopic hair-like cilia that protrude from virtually every cell of humans and other vertebrates?
Dec 6, 2011
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(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.
Oct 16, 2012
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Scientists have discovered that immune cells, known as microglia, help maintain the health of myelin—the insulating layer that forms around nerve cells—which is important for nerve cells in the brain and spinal cord to ...
Dec 14, 2022
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Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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Scientists at Scripps Research have found an important immune system-regulating protein that in principle could be targeted to treat cancers and chronic viral infections.
Nov 27, 2018
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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 ...
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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An international research team led by Dr. Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing ...
Dec 12, 2022
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