Researchers at Stanley Manne Children’s Research Institute at Ann & Robert H. Lurie Children’s Hospital of Chicago, and colleagues, used a blood test and microarray technology to identify distinct molecular signatures in children with cystic fibrosis. These patterns of gene expression ultimately could help predict disease severity and treatment response, and lead to therapies tailored to each patient‘s precise biology. Findings were published in Physiological Genomics. “Our findings pave the way...
Category: <span>Genetics</span>
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Scientists cut main heart disease risk locus out of DNA by genome editing
LA JOLLA, CA – Over the past decade we’ve learned that billions of people carry a mysterious specter in their DNA that strongly increases their risk for life threatening cardiovascular diseases, such as heart attacks, aneurysms or strokes, no matter what diet, exercise or medical regimen they follow. IMAGE: MICROSCOPY IMAGE SHOWING VASCULAR SMOOTH MUSCULAR...
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DNA damage leads to genetic diseases and cancer
Scientists revealed how DNA damage influences mutations. Turned out that its contribution to mutagenesis was underestimated and many of the inheritance mutations are caused not by errors in DNA doubling, but by damage to this fragile molecule. The study was conducted by an international research group and published in Nature Genetics. Unfortunately, the reasons for...
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Urocortin 3 gene therapy increases systolic and diastolic function in heart failure
New Rochelle, NY, November 14, 2018–Mice with heart failure that were treated with AAV8-based gene therapy to deliver the protein urocortin 3 (UCn3) had increased blood levels of UCn3 over a 5-week period and improved heart function. The mice received a single injection of AAV8.UCn3 after cryoinjury to induce left ventricular heart failure and showed...
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Gene editing possible for kidney disease
For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future. Experts at Newcastle University, UK, have shown in a cell model and in a mouse model that gene editing could be used for Joubert syndrome to stop...
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Offering free DNA sequencing, Nebula Genomics opens for business. But there’s an itsy-bitsy catch
Information wants to be free, says the old internet meme, and a genomics company will now apply that to DNA: Starting on Thursday, the startup Nebula Genomics is giving customers the option of having their full genome sequenced at no cost, a first for direct-to-consumer genetics. There is, naturally, an itsy-bitsy little catch. Customers will...
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23andMe’s Pharmacogenetic Test Approved by FDA
The FDA has just approved 23andMe’s Personal Genomic Service (PGS) Pharmacogenetic Reports. This marks the first direct-to-consumer test for pharmacogenetics of enzyme variants that may affect the way patients break down medications. Consumers collect their saliva into 23andMe’s testing kit, mail it to the company’s labs, and then receive the results via an online portal....
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Genetic risk factor for CTE detected
TMEM106B is one of the first genes to be implicated in CTE. It may partially explain why some athletes present with severe CTE symptoms while others are less affected despite similar levels of head trauma. The study provides preliminary evidence that this genetic variation might help predict which individuals are at greater risk to develop...
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New genetic cause of liver fat uncovered
New research has uncovered genetic variations that may contribute to the development of non-alcoholic fatty liver disease (NAFLD), the leading cause of liver disease. Dr. Mayada Metwally looking down a microscope. Credit: The Westmead Institute for Medical Research NAFLD is major health concern in Western countries, with one in four people, including children, affected. The...
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New gene therapy reprograms brain glial cells into neurons
A new gene therapy can turn certain brain glial cells into functioning neurons, which in turn could help repair the brain after a stroke or during neurological disorders like Alzheimer’s or Parkinson’s diseases. In a series of studies in animals, a team of Penn State researchers led by Dr. Gong Chen developed a new gene...