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 ...
Researchers at Case Western Reserve University and the Cleveland Clinic in Cleveland, Ohio, have investigated the potential link between new-onset retinal vascular occlusion (RVO) after receiving the COVID-19 vaccination ...
An experimental drug that is already in clinical trials for other diseases could disrupt a positive feedback loop that exacerbates pulmonary arterial hypertension, a dangerous and rapidly fatal condition for which there is ...
Researchers have successfully used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and can ...
Jan 6, 2021
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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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Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity.
Apr 8, 2012
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A small team of medical workers and researchers in the U.S. has published a case study of two men, both deer hunters, who developed a rare prion disease. In their study, published in the journal Neurology, the group describes ...
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects just 1 in every 20 million people; it is estimated that fewer than 400 children in the world have the disease. HGPS is characterized ...
Apr 22, 2024
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Inside the brains of people with psychosis, two key systems are malfunctioning: a "filter" that directs attention toward important external events and internal thoughts, and a "predictor" composed of pathways that anticipate ...
Apr 11, 2024
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Genetic studies of diseases map segments of the genome driving disease. But to understand how those changes contribute to disease progression, it is important to understand how they may alter gene regulation of disease genes ...
Apr 9, 2024
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