Screening Newborns to Help Fight Rare Diseases


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Newborns in Europe could soon be getting a heads-up on rare diseases before they're old enough to know for sure.

Dr. Alessandra Ferlini, an associate professor in medical genetics at the University of Ferrara in Italy, is leading a project that aims to have every child born in Europe screened for a range of rare diseases before they even realize they have them, the Telegraph reports.

Ferlini's SCREEN4CARE project, which will begin a trial in Italy in the coming weeks, aims to screen 25,000 newborns for 245 treatable rare diseases over the next five years.

Of the 80% of rare diseases that have a genetic origin, 70% start in childhood, according to the project's website.

"Genetic screening offers the significant benefit of providing more accurate data for more rare disease conditions," Ferlini says in a press release.

"This in turn would result in more effective treatments."

Currently, diagnosis of rare diseases in Europe can take as long as five years, according to the press release.

Under SCREEN4CARE, it would take less than two days for newborns to be screened for rare diseases using five drops of blood two days after birth.

This would be faster than current national programs, which screen for only a small number of rare diseases using blood tests

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