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Aurora magazine

Can metabolic diseases be identified in newborns?

A Stanford team is developing a study dedicated to the diagnosis of metabolic diseases. Over the next few years, researchers will study the genetic profile of thousands of patients treated at Lucile Packard Children’s Hospital Stanford and Stanford Children’s Health clinics.

The goal is to create a metabolic profile for each patient, so as to identify problems in time. Scientists will collect blood and urine samples from patients. Starting from these, they will examine about 800 lipids and 700 non-lipids. If all goes as planned, the team will complete 1,000 metabolic profiles by the end of 2019. To date, the clinical routine involves the measurement of a fraction of metabolites present in the blood.

The most famous are glucose and cholesterol, important but not sufficient to have a complete clinical picture. Actual measurements provide information on specific pathologies. The purpose of this study is to shift attention to a far greater number of diseases. Furthermore, researchers hope to better understand the genetic origins of these diseases. The profiling of healthy patients at the moment can help identify problems before they occur.

In addition, it could help to understand why some newborns are more at risk of metabolic diseases, such as premature babies. In this way it will be easier to take measures in time, developing new therapies. The ultimate goal of researchers is to offer genetic screening to all newborns at risk. Once a possible genetic anomaly linked to metabolic problems is identified, it will be possible to work to keep them healthy rather than heal them once they are adults.