Pompe Disease Around the World

Description:
Pompe Disease Around the World: this symposium will include discussions of how specific genetic variants in the GAA gene, the frequencies of which can vary between different parts of the world, contribute to the spectrum of Pompe disease presentations

Supported by Sanofi Genzyme.

Link to Survey

Presentations in this session

Welcome & Introduction
Mary-Alice Abbott.
Baystate Medical Center, MA, USA.

Analysis of GAA gene variants in the global Pompe Registry & Perspectives on the U.S. experience with Pompe disease newborn screening
Mary-Alice Abbott.
Baystate Medical Center, MA, USA.

Pompe disease genetics, clinical presentations, and newborn screening in Taiwan
Yin-Hsiu Chien.
National Taiwan University Hospital, Taiwan.

Update of the Pompe variant database for the prediction of clinical phenotypes: a genetic modifier for the IVS1 variant, novel disease-associated variants, common sequence variants, and results from newborn screening
Pim Pijnappel.
Erasmus Medical Center, Netherlands.

Q&A

Faculty

Mary-Alice Abbott
Mary-Alice Abbott.
Baystate Medical Center, MA, USA.

Dr. Abbott is Chief of the Medical Genetics division at Baystate Medical Center and vice-chair of Pediatric Specialties for Baystate Children’s Hospital in Springfield, MA. She is an Associate Professor in the Department of Pediatrics, UMass Medical School-Baystate. Baystate’s Medical Genetics group delivers care to a diverse population of reproductive, pediatric, and adult patients. Her areas of interest include newborn screening, dysmorphology, lysosomal storage diseases, and emerging therapeutics. Dr. Abbott graduated from Wellesley College, and then was awarded her MD and PhD degrees from the University of Massachusetts Medical School and Graduate School of Biomedical Sciences in Worcester, MA. She achieved her board certifications in Pediatrics and Medical Genetics after completing her training at UConn / Connecticut Children’s Medical Center.


Yin-Hsiu Chien
Yin-Hsiu Chien.
National Taiwan University Hospital, Taiwan.

Dr. Yin-Hsiu (Nancy) Chien graduated from Chang Gung Medical School and obtained her PhD from National Taiwan University. She undertook pediatric residency training at National Taiwan University Hospital, and completed her fellowship in Pediatric Allergy, Immunology & Rheumatology before then completing her fellowship in Medical Genetics and Metabolism, both at National Taiwan University Hospital. Dr. Chien has made diverse contributions in the fields of inborn errors of metabolism and primary immunodeficiencies. She is the director of the newborn screening center at National Taiwan University Hospital, which routinely screens around one third of newborn infants in Taiwan. Dr. Chien and her team have played an important role in making Taiwan’s newborn screening programs into one of the most developed newborn screening programs in the world. She is currently focusing on Pompe disease, specifically on early diagnosis and improvement of treatment, as well as on early diagnosis of severe immunodeficiency.


Pim Pijnappel

Pim Pijnappel.
Erasmus Medical Center, Netherlands.

Associate Professor and Head of Molecular Stem Cell Biology Group at the Center for Lysosomal and Metabolic Diseases and the Departments of Pediatrics and Clinical Genetics of the Erasmus MC