Entering a new chapter in the treatment of Duchenne Muscular Dystrophy

The European Alliance for SMA Newborn Screening has set out a goal to have Spinal Muscular Atrophy (SMA) included in all newborn screening programmes by 2025 To explain their position and learn more about the importance of SMA screening they have launched a whitepaper, which can be downloaded from their website. Follow link for the paper

Early diagnosis of lysosomal storage disorders is essential for better patient outcomes. In her presentation, Dr. Francyne Kubaski of the Medical Genetics Service of Brazil shares the learnings from an LSD newborn screening pilot study using tandem mass spectrometry. The study was conducted using PerkinElmer’s NeoLSD ™ MSMS kit, which enables screening of up to six lysosomal storage disorders from a single blood spot punch. See the video to learn more.

Idario Santos - talks about his sons journey with Maple Syrup Urine Disease - Sweet Odyssey