UT Southwestern scientists have adapted a classic research technique called forward genetics to identify new genes involved in autism spectrum disorder (ASD). In a study published this week in eLife, the researchers used this approach in mice to find one such gene called KDM5A. Approximately 1 in 54 children in the U.S. is diagnosed with
Osteoarthritis is one of the most common problems associated with aging, and although there are therapies to treat the pain that results from the breakdown of the cartilage that cushions joints, there are no available therapies to modify the course of the disease. However, working in a mouse model of the disorder, researchers at Washington
Traditionally, geneticists divide disorders into “simple,” where a single gene mutation causes disease, or complex, where mutations in many genes contribute modest amounts. A new study suggests that the truth is somewhere in between. For many years, scientists studying patient genomes have gained glimpses of genetic “burden” or additional genetic variation that contributes to the
Scientists have identified an oncogene (a cancer-causing gene) responsible for glioblastoma, the deadliest brain tumor. The discovery offers a promising new treatment target for a cancer that is always fatal. The researchers say the oncogene is essential to the survival of the cancer cells. Without it, the cancer cells die. Scientists have already developed many
Saying hi with safe social distance! Amy Schumer and her 10-month-old son, Gene, went to see her dad, Gordon Schumer, through his window amid the coronavirus spread. “Visiting dad,” the comedian, 38, captioned her Tuesday, March 31, Instagram upload. In the footage, the Girl With the Lower Back Tattoo author held her toddler with one
Researchers at the National Institutes of Health have discovered in mice what they believe is the first known genetic mutation to improve cognitive flexibility—the ability to adapt to changing situations. The gene, KCND2, codes for a protein that regulates potassium channels, which control electrical signals that travel along neurons. The electrical signals stimulate chemical messengers
A new technique could dramatically reduce the number of colorectal cancer patients who unnecessarily undergo major surgery to remove tumors, instead of a minimally invasive procedure. Biomedical scientist Xin Wang of City University of Hong Kong and colleagues have used machine learning to identify a gene expression pattern, or signature, associated with colorectal cancer spreading,
Breastfed children have a lower risk of obesity, which may be linked to reduced expression of the hormone, leptin; according to research presented today at the 58th Annual European Society for Paediatric Endocrinology Meeting. The study reported that genetic modifications known to suppress leptin levels were more common in breastfed babies than formula-fed, and that
Not all strokes have a clear-cut cause like high blood pressure or smoking. For those so-called cryptogenic strokes, new research suggests cancer might be the trigger—a finding that could potentially lead to earlier diagnosis of cancer. It came down to genes. Using blood samples, researchers looked at more than 12,000 genes and found 438 that
A new gene therapy turns glial cells—abundant support cells in the brain—into neurons, repairing damage that results from stroke and significantly improving motor function in mice. A paper describing the new therapy, which uses the NeuroD1 gene, appears online in the journal Molecular Therapy. Once further developed, this NeuroD1-based gene therapy could potentially be used
‘Cannabis addiction gene’ that could make people more likely to abuse the drug is discovered by scientists in a ‘really important’ breakthrough Gene CHRNA2 regulates a ‘nicotine receptor’ in the brain, scientists have said Low levels of this receptor has been linked to an increased of marijuana abuse Discovery could help medics treat and even
A team of WA researchers has uncovered new genes that could play an important role in the development of sarcoma, a group of rare bone, muscle and connective tissue cancers. The study, undertaken by Ph.D. student Rachel Jones and led by Associate Professor Evan Ingley from the Harry Perkins Institute of Medical Research and Murdoch
A new computational framework has revealed key differences between four rheumatoid arthritis medications and their impact on biological pathways in mice. Niki Karagianni of Biomedcode Hellas SA, Greece, and colleagues present their new approach and findings in PLOS Computational Biology. People with rheumatoid arthritis often receive medications that target and inhibit Tumor-Necrosis Factor (TNF), a
Scientists have identified a gene mutation in the tumours of men with prostate cancer that is linked to very poor survival—and which could be used to pick out patients for more intensive treatment. Men with mutations in the retinoblastoma gene in their tumours were more than three times as likely to die and nearly seven
A group of researchers from the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (Biomedical Research Networking Centre on Rare Diseases), Universidad Carlos III de Madrid (UC3M), the Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) (Research Center for Energy, Environmental and Technology), and the Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD)
TUESDAY, Aug. 14, 2018 — A new type of genetic analysis could identify millions of Americans at high risk for five serious and common diseases, researchers report. The diseases include coronary artery disease, the heart rhythm disorder atrial fibrillation, type 2 diabetes, inflammatory bowel disease and breast cancer. Researchers tested and validated the genetic risk
Almost 1 million people in the United States and nearly 10 million people across the world live with Parkinson’s disease. According to the National Institutes of Health (NIH), 15 percent of those living with Parkinson’s have a hereditary form of the disease. Such hereditary forms of the condition are often down to mutations in several
A new gene associated with disease severity in models of rheumatoid arthritis has been identified by researchers at the Icahn School of Medicine at Mount Sinai. The discovery could provide a new pathway for treatment and a way to measure the prognosis of patients diagnosed with the autoimmune condition. Through a series of experiments—on synovial
With the combined efforts of three Yale laboratories, researchers conducted the first demonstration of site-specific gene editing in a fetus, correcting a mutation that causes a severe form of anemia. The technique, described in a paper published June 26 in Nature Communications, involves an intravenous injection of nanoparticles carrying a combination of donor DNA and
Researchers at the RIKEN Center for Brain Science in Japan have discovered that a gene associated with human intellectual ability is necessary for normal memory formation in mice. Published in Nature Neuroscience, the study shows that mice with only one copy of the gene replay shorter fragments of their previous experiences during periods of rest,
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