A new study shows that people with a rare genetic disease that causes bleeding in the brain have gut microbiomes distinct from those without the disease. Moreover, it is the molecules produced by this bacterial imbalance ...
May 27, 2020
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Activating an enzyme that sounds an alarm for the body's innate immune system causes two lethal autoimmune diseases in mice, while inhibiting the same enzyme rescues them, UT Southwestern Medical Center researchers report.
Oct 27, 2015
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When Shayla Haddock was born in 1997, her parents immediately realized something was wrong. The sixth of seven children, Shayla had unusual facial features. She had club feet and shorter-than-normal limbs. She was smaller ...
Aug 15, 2016
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Wiedemann-Steiner Syndrome is a rare genetic disease. Patients typically suffer from several handicaps and physical symptoms and often struggle with cognitive deficits from childhood on. One gene (MLL1) has been recently ...
Apr 2, 2015
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Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic Medicine.
Feb 10, 2023
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Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up.
Aug 17, 2018
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Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.
Mar 15, 2018
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Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease, according to the results of a clinical trial published in the open access Orphanet Journal ...
Dec 17, 2014
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Alpacas aren't the typical animals that drivers spot as they wind their way through rural Tennessee, but there's a happy herd of them outside Waverly, where they eat the finest pellets, walk up and down a scenic hill and ...
Aug 14, 2019
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A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.
Mar 11, 2021
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