A new NDORMS study, published in The Lancet Rheumatology, has found a genetic variant that increases the risk of both carpal tunnel syndrome and trigger finger, and opens the door for new therapies that involve blocking the ...
Jul 22, 2022
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Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome ...
Jul 8, 2011
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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 have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that ...
Feb 26, 2012
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Doctors report they are seeing what they think is a new syndrome in babies who are exposed to fentanyl while in the womb.
Dec 10, 2023
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A new drug discovered through a research collaboration between the University at Buffalo and Tetra Therapeutics took a major step toward becoming a first-in-class treatment for Fragile X Syndrome, a leading genetic cause ...
Dec 12, 2020
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January is Thyroid Awareness Month, which makes this a good time to learn about thyroid cancer risk factors.
Jan 26, 2022
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Those with Usher Syndrome—the leading hereditary cause for simultaneous deafness and blindness, for which there is no treatment—may have a new reason for hope now that researchers have confirmed the first-ever nonhuman ...
Feb 11, 2023
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As medical science links certain genetic mutations with a greater variety of cancers, the names for these risk syndromes are falling out of step.
Jul 4, 2019
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Using induced pluripotent stem cells produced from the skin of a patient with a rare, genetic form of insulin-dependent diabetes called Wolfram syndrome, researchers transformed the human stem cells into insulin-producing ...
Apr 22, 2020
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