The increasing availability of treatments and the importance of early inter- vention have stimulated newborn screening (NBS) for lysosomal storage dis- eases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.
Children born with the rare SCID disorder can be cured with bone marrow transplantation or gene therapy. However, without the benefit of early detection, lives are lost. Bobby Gaspar, Professor of Pediatrics and Immunology at University College London, is working towards implementing