A mutation in a protein regulating natural killer (NK) cells' function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other ...
Apr 9, 2024
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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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"How many people actually have this disease?"
Feb 28, 2022
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A team, led from Great Ormond Street Hospital (GOSH), UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) and the Istituto Zooprofilattico Sperimentale delle Venezie (Legnaro, Italy), has built on recent advances ...
Dec 2, 2021
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While most cases of type 1 diabetes are classified as autoimmune diseases, a minor proportion of these patients have non-immune-mediated type 1 diabetes, sometimes referred to as type 1 B diabetes. Researchers from Children's ...
Aug 27, 2021
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A small freshwater fish found in many tropical aquariums may hold the key to unlocking one of the leading causes of respiratory diseases in humans.
Sep 15, 2014
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Cambridge scientists have discovered a rare genetic disease which predisposes patients to severe respiratory infections and lung damage. Because the scientists also identified how the genetic mutation affects the immune system, ...
Oct 17, 2013
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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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In spring 2023, Egon Bech Hansen received a much-awaited small, square package from the United States. The package contained nine plastic plates with 3,456 small wells.
Oct 6, 2023
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A brain-eating amoeba has killed a Florida man, state health officials reported.
Mar 3, 2023
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