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An Ontario-led research group has discovered a novel cancer-driving mutation in the vast non-coding regions of the human cancer genome, also known as the "dark matter" of human cancer DNA.

Gene therapy is showing promise for one of the most common causes of blindness. Data presented today shows that six patients with wet age-related macular degeneration (AMD) have, so far, gone at least six months without the need for continued injections to control a disease that typically requires treatment every four to six weeks. Researchers say the hope is that gene therapy will free patients from nearly monthly eye injections by offering a potential "one-and-done" treatment. It's not just about convenience; a more consistent treatment may also help people keep more of their vision.

Research conducted by the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences provides evidence to support expansion of insurance plan coverage of noninvasive prenatal testing (NIPT), a simple maternal blood draw which screens for fetal chromosomal disorders including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome), to women under the age of 35.

By mapping out more than 100,000 immune cells in patients with Crohn's disease, Mount Sinai researchers have discovered a signature of cells that are involved in a type of the disease that does not respond to treatment, according to a study published in Cell in August. The discovery opens the door to identifying biomarkers and tailoring therapeutic options for patients.

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

A German and British research team lead by Technical University of Munich (TUM) has examined the interplay between genetics, cardiovascular disease and educational attainment in a major population study. Genetic variants which had been linked to educational attainment in other studies were observed in the subjects. The researchers found that these variants also had implications for a more health-conscious lifestyle and thus a lower risk of cardiovascular disease -- in some cases regardless of the level of education.