SMA Features

sinal muscular atrophy

Understanding Spinal Muscular Atrophy: Recent Clinical Insights

There have been several recent publications related to spinal muscular atrophy (SMA). Below is a summary of some pieces that add to our understanding of the disease. Identifying Modifiers of SMN Proteins A study out of Bethesda, Maryland, published in Cell Reports, aimed at investigating the mechanisms by which survival motor neuron (SMN) proteins are…

Hagit Baris-Feldman

Israel Emerges as Global Powerhouse in Rare Disease Research

TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…

spinrazaa protest

Advocacy Groups, Scientists Lobby for Worldwide Newborn SMA Screening

When Gennadiy Ilyashenko’s daughter, Sophia, was born, she looked like a healthy, happy baby.  But after Sophia failed to meet certain milestones, like being able to sit up by herself, Ilyashenko took her to the family’s London, England pediatrician, who told him “she’s just a lazy baby, there’s nothing wrong with her.” Yet Sophia’s condition…

Next post in Features