Newborn Screening – How to Fill the Gap to End Diagnostic Odysseys

Many of the over 7000 rare diseases identified so far are not obvious at birth or may come with confusing, non-descript symptoms. Unfortunately, the currently available diagnostic algorithms are unsatisfactory. If a patient’s condition remains undiagnosed, the miraculous and rapid advancements in pediatric rare disease therapies mean nothing. The truth is that some families search for more than ten years for the correct diagnosis, which often translates to irreversible damage or even death