Did you know that over 99.9 percent of our DNA is identical? But a tiny 0.1 percent of genetic variations can lead to inherited diseases. Unfortunately, detecting these diseases through genetic sequencing can be pretty complicated. It's tough to determine if certain small differences in our DNA increase the risk of contracting a disease.
In a groundbreaking study, scientists at the University of Copenhagen's Department of Biology have made a significant breakthrough in diagnosing hereditary diseases. Their research findings recently released in the scientific journal Genome Biology shed light on how high-throughput experiments can ensure a better diagnosis of hereditary diseases.As we previously mentioned, it all starts with our DNA. Everyone possesses a nearly identical genetic makeup, with around 99.
The researchers at the University of Copenhagen have made strides in addressing this issue, specifically for the GCK gene, which encodes glucokinase. Glucokinase is an enzyme that governs insulin secretion in the pancreas. Genetic mutations in GCK can lead to an inherited form of diabetes, but until now, only a tiny percentage of the gene's potential variants and their effects have been identified.
One of the potential consequences of gene variants in GCK is GCK-MODY. Dr. med. Torben Hansen, a professor of genetics and a member of the PRISM center, notes that GCK-MODY patients tend to have high blood glucose levels but without the associated complications typical of other types of diabetes. However, due to the absence or inaccuracy of genetic data, many GCK-MODY patients are misclassified as having either type 1 or type 2 diabetes and thus are unnecessarily treated with medication.
The future looks bright for the diagnosis and treatment of hereditary diseases. With the help of high-throughput experiments and innovative research like that of the University of Copenhagen, we can expect continued breakthroughs in this field.