Phenylketonuria : a study showed study improvements in cognitive function, anxiety, and depression ratings associated with resumption of dietary control of phenylketonuria

Building a better future for rare diseases: campaigns launched at European and international level

The first International Neonatal Screening day is here!

Cystic fibrosis : a review of gene therapy for cystic fibrosis

Glutaryl-CoA dehydrogenase deficiency : a study showed that newborn screening programs for Glutaric aciduria type 1 have an overall positive effect on the neurological outcome but their success depends on the quality of therapy

European Alliance for Newborn Screening for Spinal Muscular Atrophy : New whitepaper on “Spinal muscular atrophy, screen at birth, save lives”

Survey on patient organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe