Experimental study in examining 300 rare diseases in newborns

Later 50 years of tourAnd programs Spanish examination of newborns They allowed the country to unify their general health in the field of child care and childbirth, which led to a total of 350,000 children annually. However, Spain intends to go one step forward thanks A new experimental study They intend to discover and prevent, thanks to genetic information, a total 300 rare diseases in Newborn.

This is shown to Medical writing, Maria Luz Coyes, Scientific Director of Sanitia de Santiago de compostela (Idis) and the main researcher of this project, which can be our country. Be in Avant -Garde from Europe“Although there are many experimental studies of this nature on the old continent, most of them have a further horizon (2030) of those that develop in national lands, which The results can be ready by 2026.

The idea of ​​the council and more than 70 researchers in this project are to reach the traditional offers that are analyzed, through a multi -center study, 2500 newborn genome In a total of nine independent – Astoria, Valnessan community, La Rega, Aragon, Catalonia, Andalusia, Murcia, Galicia and Madrid. From there, a Genetics study For “300 rare diseases appear in childhood”, which have been determined by pathogens. In addition, in positive cases, an uninterrupted metabolism analysis will be performed if the uninterrupted meaning variables “can become pathogenic or perhaps pathogenic.

“We believe that the near future is to integrate this Complementary genetic examination to traditional In order to identify many other diseases in which there is already treatment, but we do not have vital metabolic indicators. ”The head of newborns at the Santiago University Hospital explains. As is a dynamic study, all of those diseases that show treatment solutions will be merged in these two years of development.

Feasibility of examination in the shared portfolio

Although the purpose of the trunk will improve the diagnosis of all of these palace, the project also has a second goal such as verifying the ability to detect newborns in the national health system. Consequently, there will also be an analysis of the social economy that will know the effectiveness of this type of advanced examination and “which means implementing it in the joint services portfolio”, especially in light of the readiness that the Ministry of Health has shown in merged the new examination in newborns into SNS. He says: “To do this, we have to show its usefulness and address all the problems that may arise, and create a suitable circle and protocol.”

In fact, the Monica Garcia division intends to be this type of detector filter Diagnosing up to 23 illnesses In Walidiya Public Health. In any case, technological progress and metabolism signs are added to the greatest evidence that has already been created in more Screen -reasonable diseases It makes these population studies significantly in recent years, “with a very promising future with the integration of group sequence techniques,” says Professor of Pediatrics.

Discovering diseases as soon as

There is currently 34 groups Throughout the world that explores the genetic sequence as a way to expand a newborn examination to identify newborns with treatable genetic disorders, most of them are at an initial stage.

These experimental studies have been developed in the United States of America, Australia, the United Kingdom, Qatar, Greece, France, Germany and Belgium. In the European Union, a multi -centered project is implemented by coordinating it by Italy (Screen4care), Where various countries participate.