All news from Medical Genetics

Defective DNA Damage Repair Leads to Chaos in The Genome

Scientists at the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) have now found a cause for frequent catastrophic events in the genetic material of cancer cells that have only been known for a few years. The failure of an important cellular DNA repair system promotes fragmentation and defective assembly of genetic material. Cancer cells with such a repair defect can now be treated by a specific group of drugs

Recessive Genes Explain Only Small Fraction of Undiagnosed Developmental Disorder

The Deciphering Developmental Disorders study has discovered that only a small fraction of rare, undiagnosed developmental disorders in the British Isles are caused by recessive genes. The study by researchers from the Wellcome Sanger Institute and their collaborators estimated that only five percent of the patients had inherited a disease-causing gene mutation from both parents, far fewer than previously thought. This will guide research and could lead to a better understanding of the risk for future pregnancies