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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Sickle cell disease increases the risk of death or serious complications from COVID-19 infection, a pair of new studies suggests.
Dec 15, 2020
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Use of thyroid hormone to boost hepatocyte proliferation enhanced the efficiency of CRISPR/Cas9-mediated gene correction in the mouse liver. This dietary induction of hepatocyte regeneration may be a viable clinical strategy ...
Nov 10, 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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Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article published today in the Journal ...
Oct 14, 2020
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Life-threatening cardiac arrhythmias can be linked to the functional and structural consequences of gene mutations. The study is published in the peer-reviewed journal Bioelectricity.
Sep 29, 2020
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"My cholesterol is too high," a patient explained. "But I can't help it. It's hereditary." She was right. Her type of high cholesterol is called familial hypercholesterolemia (FH). It's an inherited genetic defect that causes ...
Sep 21, 2020
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