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Aurora magazine

A new approach to tests to diagnose metabolic diseases

Scientists at the Children's Medical Center Research Institute have developed a new approach to genetic testing. They combined genetic sequencing and chemical analysis. In this way they can identify the mutated gene in less time.

The goal is to develop better and personalized treatments based on the single genetic mutation. Genetic diseases are the cause of 25% of cases of infant hospitalization. Most of these genetic diseases are metabolic in nature. The body of these children cannot metabolize sugar proteins, fats and other substances. This causes serious imbalances in the body, which cause disability and in some cases death.

The only way to avoid at least some of the danger is to diagnose the disease in time. Prenatal or neonatal diagnosis is available for some disorders. In these cases, doctors prescribe specific diets to contain the damage. Most of the time, however, the diagnosis comes when the first symptoms occur. Indeed, it happens that years pass before the patient receives the correct diagnosis and can be treated as appropriate. Years during which the disease continues to develop and do damage.

The study authors identified the gene responsible for a rare metabolic disease. To do this, they used genetic sequencing and analyzed the metabolites in the blood. They then compared the data with those of healthy patients, in order to identify metabolites with abnormal levels. Later, they combined the metabolic alterations with the mutated genes. In this way they found the genes linked to the anomalies.