Genetic mutations which occur naturally during the earliest stages of an embryo's development can cause the severe birth defect spina bifida, finds a new experimental study in mice led by UCL scientists.
Feb 19, 2021
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In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to ...
Jan 27, 2021
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A new study from Tel Aviv University (TAU) presents an innovative treatment for deafness, based on the delivery of genetic material into the cells of the inner ear. The genetic material "replaces" the genetic defect and enables ...
Dec 23, 2020
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Scientists at the University of Exeter have identified a way to "rescue" cells that have genetically mutated, paving the way to a possible new treatment for rare terminal childhood illness such as mitochondrial disease.
Dec 18, 2020
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Exposure to COVID-19 could pose a risk to the health and aging of individuals who aren't even born yet, according to a newly published analysis by USC researchers.
Nov 13, 2020
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UCLA researchers have identified a compound that can reproduce the effect of exercise in muscle cells in mice. The findings are published in the journal Cell Reports Medicine.
Oct 21, 2020
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In research with key ramifications for women of childbearing age, findings by Oregon State University scientists show that embryos produced by vitamin E-deficient zebrafish have malformed brains and nervous systems.
Sep 21, 2020
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Neuroscientists of the University of Zurich shed a new light on the mechanisms responsible for familial migraine: They show that a genetic dysfunction in specific brain cells of the cingulate cortex area strongly influences ...
Jun 24, 2020
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Skin rash combined with head and joint pain are the symptoms that patients with familial (hereditary) cold urticaria develop when exposed to temperatures below 15 °C. Researchers from Charité - Universitätsmedizin Berlin ...
Apr 28, 2020
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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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