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The ABCs of Pompe Disease

Title: The ABCs of Pompe Disease Date: Monday, January 13, 2025 Time: 1 PM CT / 2 PM ET Speaker: Erin Huggins, MS, CGC Webinar Overview: Are you looking for information on Pompe disease or trying to navigate a new diagnosis? Overwhelmed by the amount of information online and the sea of jargon and terminology? Whether you are dealing with a diagnosis, are a family member or a caregiver, or even a medical provider who just wants a refresher on the basics, this webinar is for you! We will cover the “ABCs” of Pompe disease including its underlying cause, genetics/inheritance, newborn screening, treatment/management, and more. Information will be presented in a thorough, easy-to-follow manner and there will be time for questions at the end. We hoe you’ll join us! Speaker Bio: Erin Huggins is a board-certified genetics counselor in Durham, NC, USA. She received her B.S. in Biology from Coastal Carolina University in 2016 and her M.S. in Genetic Counseling form the University of South Carolina in 2018. From 2019-2024, Erin was a member of Dr. Priya Kishnani’s Pompe Disease Clinical and Research Team at Duke University, where she participated in numerous research activities related to lysosomal and glycogen storage diseases, with her primary interests in newborn screening for Pompe disease and clinical variant interpretation. In addition to her research role, Erin provided clinical genetic counseling for patients across the lifespan with a variety of inherited metabolic disorders. In 2024, Erin stepped down from her role on Dr. Kishnani’s team to pursue her PhD in Molecular Genetics and Microbiology at Duke University, where she continues to contribute to research related to Pompe disease. All Rights reserved. No part of this video may be reproduced or transmitted in any form or by any means, electronic or mechanical, without the written permission of the copyright holder. Website: https://amda-pompe.org/ We Need Your Help! https://amda-pompe.org/donate/