Phelan-McDermid Syndrome and the JAG201 Study

Alex Kolevzon, MD, Clinical Director of the Seaver Autism Center at Mount Sinai, discusses Phelan-McDermid syndrome and the JAG201 study.     Phelan-McDermid syndrome is a rare, genetic form of autism spectrum disorder. It is caused by a variant in the...

Intrauterine Treatment For Lysosomal Diseases

Priya Kishnani, MD, Professor of Pediatrics at Duke University Medical Center, discusses intrauterine treatment for lysosomal diseases.     The study, “Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a...