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Title: Defining Central Nervous System Abnormalities in Infantile and Late-Onset Pompe Disease Patients Date: Tuesday, October 17, 2023 Speakers: Raquel van Gool Jaymin Upadhyay Webinar Overview: In this presentation, we will provide a short description of neurological signs and symptoms that have been reported in patients with Infantile- or Late-Onset Pompe Disease (IOPD/LOPD). We will describe our comprehensive approach toward understanding the neurobiological abnormalities in IOPD/LOPD. Finally, we will share preliminary findings from ongoing studies involving patients with IOPD/LOPD and that are taking place at Boston Children’s Hospital. Speaker Bios: Raquel van Gool is a researcher and PhD Candidate at the department of Anesthesiology, Critical Care and Pain Medicine at Boston Children’s Hospital and School for Mental Health and Neuroscience at Maastricht university of the Netherlands. She completed a bachelor’s program in Psychology followed by a research master’s program in Cognitive and Clinical Neuroscience with a specialization in pharmaceutical development, during which she worked for several months with Boston Children’s Hospital researching neuropathic conditions and lysosomal storage diseases. Raquel’s current work focuses on the characterization of neurological manifestations of lysosomal storage diseases, particularly in Pompe Disease and Niemann-Pick disease Type C, as member of Dr. Jaymin Upadhyay’s research team. Jaymin Upadhyay is a translational medicine scientist with over 15 years of experiences in the neurosciences. In 2018, Dr. Upadhyay returned to academia after spending eight years in the pharmaceutical industry. Throughout his career, he has led, or co-led multitude of investigations aimed at (i) validating new drug targets, (ii) validating novel preclinical or clinical methodologies, and (iii) translating preclinical research findings into early phase, clinical trials. Across translational biomarker studies, Dr. Upadhyay has utilized his background in neuroimaging physics and systems neuroscience and integrated this knowledge base with expertise in drug discovery and development. At Boston Children’s Hospital, he serves as the principal investigator for clinical studies evaluating central manifestations in patients with lysosomal storage diseases such as Infantile- and Late-Onset Pompe Disease and Niemann-Pick disease type C. Website: https://amda-pompe.org/ We Need Your Help! https://www.paypal.com/donate?token=o...