Genetics
Genetic discovery gives insight into causes of eye disease
A genetic defect could hold the key to preventing or delaying the onset of a debilitating eye disease that can lead to vision loss and blindness.
Mar 16, 2021
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Page 16 - News tagged with gene defects
Genetics
Gene therapy shows promise for treating Niemann-Pick disease type C1
For the first time, National Institutes of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). ...
Oct 26, 2016
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Genetics
A syndrome combining intellectual disability, epilepsy and hypotonia results from the failure of a single gene
Each gene variation has the potential to trigger specific defects. Among all genetic conditions, diseases recessive occur only when both the father and the mother are healthy carriers of the same defective gene which can ...
Mar 17, 2016
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Genetics
Analytical tool predicts genes that can cause disease by producing altered proteins
Predicting genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function, rather than those that lose their function, is now possible thanks to an international ...
Jul 19, 2018
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Genetics
Hard-to-detect chromosomal anomalies explain neurodevelopmental birth defects
Balanced chromosomal abnormalities (BCAs), a category of structural changes to the human genome, may account for a large portion of birth defects related to brain development and function, according to research presented ...
Oct 11, 2015
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Genetics
Scientists, ethicists debate future of gene editing
(HealthDay)—What if faulty genes in your DNA could be easily corrected, avoiding the ravages of diseases like cystic fibrosis or certain cancers?
Dec 3, 2015
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Genetics
How a quirky fruit fly gene could help researchers develop new cancer drugs
(Medical Xpress) -- Loyola researchers are taking advantage of a quirk in the evolution of fruit fly genes to help develop new weapons against cancer.
Jun 14, 2012
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Medical research
Novel gene-editing therapy continues to show positive results in sickle cell patients
Researchers have presented the latest findings from a clinical trial aimed at discovering a cure for sickle cell disease, a painful genetic blood disorder with limited treatment options.
Jun 15, 2024
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Pediatrics
Researchers pinpoint genetic pathway of rare facial malformation in children
Researchers at Seattle Children's Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe ...
May 3, 2012
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Medical research
Scientists demonstrate promising new approach for treating cystic fibrosis
UNC School of Medicine scientists led a collaboration of researchers to demonstrate a potentially powerful new strategy for treating cystic fibrosis (CF) and potentially a wide range of other diseases. It involves small, ...
Jun 16, 2021
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