by Peter Ciszewski | Mar 15, 2022
Kathie Bishop, PhD, Chief Scientific Officer, Acadia Pharmaceuticals, discusses the proposed mechanism of action of trofinetide, an orphan drug in development to treat Rett syndrome. Rett syndrome is a rare progressive neurodevelopmental condition that...
by Peter Ciszewski | Mar 7, 2022
Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children’s Hospital of Orange County, discusses RGX-111, an investigational gene therapy for mucopolysaccharidosis type I (MPS I). Data from...
by Peter Ciszewski | Mar 5, 2022
Steve Pakola, MD, Chief Medical Officer for Regenxbio, discusses data from the ongoing gene therapy trials in children with mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II). The data was presented at WORLDSymposium 2022. MPS I is...
by Peter Ciszewski | Mar 4, 2022
Russ Jelsema, MD, Senior Medical Director at Natera, discusses the results of the SMART study, which evaluated the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 deletion syndrome (22q) in a cohort of...
by Peter Ciszewski | Mar 3, 2022
Jonathan Wall, PhD, Director of the University of Tennessee Graduate School of Medicine’s Amyloidosis and Cancer Theranostics Program and Co-founder & Interim Chief Scientific Officer at Attralus, explains why immunoglobulin light chain-associated (AL)...
