How To Manage LOPD Patients Diagnosed Through NBS скачать в хорошем качестве

How To Manage LOPD Patients Diagnosed Through NBS

Title: New insights into Pompe disease since the advent of NBS Speakers: Dr. Priya Kishnani, MD Erin Huggins, MS, CGC Webinar Overview: An overview of the lessons learned from newborn screening for Pompe disease and its impact on disease management. Speaker Bios: Dr. Priya Kishnani, MD Dr. Priya Kishnani, MD, is Chief of the Division of Medical Genetics in the Department of Pediatrics, and Professor of Molecular Genetics and Microbiology at Duke University Medical Center. She holds certifications from the American Board of Medical Genetics and the American Board of Biochemical Genetics. She holds numerous appointments at Duke University Medical Center, serving as Director of the Glycogen Storage Disease Clinical and Research Program, Director of Clinical Trials, and Director of the YT and Alice Chen Center for Genomic Research and of the Metabolic Clinic. Her passion is to establish the highest quality of care and treatment by understanding the emerging natural history of individuals through investigator-initiated studies and clinical research trials with a focus on glycogen and lysosomal storage disorders. She has published extensively on these conditions, through research publications, textbooks, and scientific reviews. Dr. Kishnani was involved in the clinical development of alglucosidase alfa for the treatment Pompe disease (PD), resulting in its US Food and Drug Administration (FDA) approval in 2006, and in the development of avalglucosidase alfa-ngpt as a second-generation enzyme treatment, which was approved by the FDA in 2021. She also focuses on next-generation therapies such as gene therapy and other modalities to treat PD. As well as having an interest in long-term complications of PD, Dr. Kishnani and her team at Duke University played an integral role in the nomination and approval for the addition of PD to the Recommended Uniform Screening Panel for newborn screening in the United States in 2015. Erin Huggins, MS, CGC Erin Huggins is a board-certified genetic counselor at Duke University in the Division of Medical Genetics, Department of Pediatrics. She received her B.S. in Biology from Coastal Carolina University in 2016 and her M.S. in Genetic Counseling from the University of South Carolina in 2018. She provides clinical genetic counseling for patients across the lifespan with a variety of inherited diseases including glycogen storage diseases, lysosomal storage diseases, and other inborn errors of metabolism. In addition to her clinical role, Erin is a member of Dr. Priya Kishnani’s research team and is involved in a number of research activities related to metabolic disease. Her primary areas of interest are newborn screening for Pompe disease and clinical variant interpretation in rare diseases. Erin is originally from Charleston, SC, and currently resides in Durham, NC. 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://www.paypal.com/donate?token=D...