Dear Colleagues,

More than 50 years have passed since the world's first newborn screening (NBS) program began. Initially, the NBS program was initiated for several diseases of inborn errors of metabolism, but it has gradually been expanded to include other diseases such as endocrine diseases. In the past two decades, as therapeutic options and diagnostic methods have evolved, the target diseases for NBS have become more diverse. The big change began with the expansion of NBS by MS/MS that began in the late 1990s. This method allowed us to simultaneously test for more than 20 kinds of amino acidemias, organic acidemias and fatty acid oxidation disorders. Subsequently, a method to simultaneously measure the activity of multiple enzymes in dried blood spots (DBS) was developed by utilizing the stability of lysosomal enzymes in the DBS, which allowed simultaneous screening for many lysozomal diseases such as mucopolysaccharidoses, Pompe disease, Fabry disease and Gaucher disease. The target of mass screening is expanding beyond classic metabolic disorders, and real-time PCR-based screening methods have been established for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA).

While pilot studies have been conducted to identify new screening targets, NBS programs are starting in developing countries where NBS was not previously available, and many children are now benefiting from their NBS programs. It is very important to understand how these new NBS programs will impact the healthcare system and child health system in each country.

With great enthusiasm, we await your outstanding research. As the Guest Editors of this Special Issue, we are convinced that your work could make an excellent contribution and that your personal involvement would greatly increase its impact. Therefore, we would be thrilled if you submitted a review, research article, or case report to this Special Issue “Advances in Newborn Screening” Please feel free to submit both research articles and case reports.

Dr. Hironori Kobayashi
Guest Editor

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• newborn screening
• lysosomal storage disease
• expanded newborn screening
• severe combined immunodeficiency
• spinal muscular atrophy
• quality assurance
• cost effectiveness