The Pompe Disease Content Hub Channel

Pompe Disease: Genetics

Kara Anstett, MS, CGS, from NYU Langone Health, discusses the genetics of Pompe disease at the Muscular Dystrophy Association Engage Pompe Symposium in July 2020. The role of genetics and enzyme levels in various types of Pompe disease, testing options for diagnosis and carrier screening, and family planning are discussed. According to Ms Anstett, women with Pompe disease should discuss considerations for pregnancy, their specific risks, and a plan for their individual care.

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► 13:25

An Overview of Research Program for Pompe Disease

Pompe Disease Content Hub

Priya Kishnani, MD, Chen Family Professor of Pediatrics, Chief of the Division of Medical Genetics, Duke University Medical Center, and Medical Director of the YT and Alice Chen Pediatric Genetic...

► 1:37:47

Small Molecule Inhibitor Reduces Glycogen in Preclinical Mouse Models of Pompe Disease

Pompe Disease Content Hub

Julie Ullman, PhD, of Maze Therapeutics, discusses a new investigational drug, MZE001, that is a small molecule inhibitor of glycogen synthase 1 (GSY1) for the treatment of Pompe disease during...

► 02:10

Multidisciplinary Approach to Managing Pompe Disease

Pompe Disease Content Hub

Priya Kishnani, MD, Chen Family Professor of Pediatrics, Chief of the Division of Medical Genetics, Duke University Medical Center, and Medical Director of the YT and Alice Chen Pediatric Genetic...

► 54:32

Newborn Screening for Pompe Disease

Pompe Disease Content Hub

Damara Ortiz, MD, Director of the Lysosomal Storage Diseases Program at the University of Pittsburgh Medical Center discusses newborn screening for Pompe disease and mucopolysaccharidosis type 1. She presents an...