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In experiments using mice, a team of UC San Francisco researchers has discovered a gene that plays an essential role in noise-induced deafness. Remarkably, by administering an experimental chemical—identified in a separate UCSF lab in 2013—that acts on the pathway linking this gene to hearing loss, they found that they could prevent noise-induced deafness in […]
Ever wonder why things that normally feel gentle, like putting on soft shirts, are painful after a sunburn? In a study of four patients with a rare genetic disorder, NIH researchers found that PIEZO2, a gene previously shown to control our sense of our bodies in space and gentle touch, may also be responsible for […]
Scientists have determined a gene signature that is linked to the severity of spinal cord injury in animals and humans, according to a study in the open-access journal eLife. The discovery of key genes that are switched on or off in response to spinal cord injury could inform the development of biomarkers that predict recovery […]
A Puerto Rican patient with X-linked retinitis pigmentosa (XLRP) is hoping to save his vision after an innovative gene therapy procedure at Bascom Palmer Eye Institute at the University of Miami Miller School of Medicine. On August 23, Julio Adorno Nieves, 23, became the first U.S. patient to be given new genes for his inherited […]
The technique is aimed at easing a frustrating problem in genetic testing. (AP) NEW YORK – Scientists say they’ve found a new way to help determine whether specific genetic abnormalities are likely to make people sick, a step toward avoiding a vexing uncertainty that can surround DNA test results. Researchers used genetic engineering to create […]
Preterm birth is a major global public health problem. Every year, 15 million babies are born prematurely and many will suffer from neurodegenerative disorders, including cerebral palsy, learning disabilities, impaired vision, and behavioural problems. Premature delivery (before 37 weeks of pregnancy) is induced by contractions in the expectant mother but causes behind this mechanism remain […]
Scientists are edging closer to defeating a longtime enemy of human health: haemophilia, the inability to form blood clots. After trying for decades to develop a gene therapy to treat this disease, researchers are starting to succeed. In recent experiments, brief intravenous infusions of powerful new treatments have rid patients – for now, at least […]
Research led by Hui-Yi Lin, Ph.D., Associate Professor of Biostatistics at LSU Health New Orleans School of Public Health, has developed another novel statistical method for evaluating gene-to-gene interactions associated with cancer and other complex diseases. The Additive-Additive 9 Interaction (AA9int) method is described in a paper published in Bioinformatics. “This method can identify combinations […]
New research highlights the extent to which epigenetic variation is influenced by both inherited and environmental factors. Epigenetic processes affect the expression or activity of genes without changing the underlying DNA sequence and are believed to be one mechanism by which the environment can interact with the genome. Now, an international group of researchers including […]
In exfoliation glaucoma, a protein dandruff clogs the outflow pathway for the fluid in our eyes. Scientists have evidence that variants of the same gene that enables us to make connective tissue by crosslinking proteins is associated with this unusual glaucoma. Now they are looking in human eye tissue at a long piece of RNA […]