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 5 - News tagged with gene defect
Medical research
How one patient's rare mutation helped solve a mycobacterial mystery
Just because you are exposed to a pathogen does not mean you will become sick. Increasingly, scientists have shown that genetics play a central role in determining whether the pathogens that cause a wide range of disease—including ...
Mar 10, 2021
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Genetics
A genetic patch to prevent hereditary deafness
They can hear well up to about forty years old, but then suddenly deafness strikes people with DFNA9. The cells of the inner ear can no longer reverse the damage caused by a genetic defect in their DNA. Researchers at Radboud ...
Mar 2, 2021
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Genetics
Partners in crime: Genetic collaborator may influence severity of the rare disease, NGLY1
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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Genetics
Scientists develop new gene therapy for deafness
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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Genetics
Induced liver regeneration enhances CRISPR/Cas9-mediated gene repair
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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Genetics
Researchers identify genetic elements involved in heart development
The advent of genome science has given researchers an unprecedented ability to understand the root causes of a host of conditions. Justin Cotney, assistant professor of genetics and genome sciences in the UConn School of ...
Nov 4, 2020
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Other
Germany's Bayer to buy US gene therapy specialist AskBio
German health care company Bayer said Monday it is buying Asklepios BioPharmaceutical, a U.S.-based firm specializing in gene therapy, in a deal worth up to $4 billion.
Oct 26, 2020
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Genetics
Metabolomics meets genomics to improve patient diagnosis
A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years. Having an accurate ...
Jul 7, 2020
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Diseases, Conditions, Syndromes
Researcher's work contributes to a rethinking of what leads to a rare disorder causing blindness
A series of papers published recently by two teams of vision researchers at the University at Buffalo and the University of Alabama at Birmingham (UAB) is revealing important new information about the possible cause of a ...
Jun 24, 2020
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