Webinar Details
Title: BiomarkersA measurable sign in the body that helps track disease progression or treatment response. of Central and Musculoskeletal Symptoms in Infantile- and Late-Onset Pompe DiseaseA form of Pompe disease that begins after infancy and usually progresses more slowly.
Date: Tuesday, November 17, 2026
Time: 1 p.m. CT / 2 p.m. ET
Speakers:
Jaymin Upadhyay, PhD
Raquel van Gool, PhD
Webinar Overview:
In this presentation, an overview of recent biomarker studies performed in patients with Infantile- and Late-Onset Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart. (IOPDA severe form of Pompe disease that begins in infancy and often affects the heart and muscles./LOPD) will be provided. We will discuss neurobehavioral and neuromuscular insights towards neurological phenotypes expressed in IOPD and LOPD cohorts as well as immune–metabolic–neurotrophic plasma biomarker signatures associated with neuromuscular function in IOPD/LOPD. We will briefly describe our ongoing studies to identify and validate methods to monitor patients with IOPD and LOPD in an at-home setting.
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Speaker Biography
Jaymin Upadhyay, PhD
Translational Medicine Scientist, Boston Children’s Hospital and Harvard Medical School
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.
Raquel von Gool, PhD
Clinical Researcher / Postdoctoral Fellow, Boston Children’s Hospital and Harvard Medical School
Raquel van Gool, PhD, is a clinical researcher in lysosomal storage diseases. Since 2021, Dr. van Gool has worked on studies aimed at characterizing central and neuromuscular manifestations of lysosomal storage diseases, identifying and validating objective biomarkers of disease severity and treatment response, and developing accessible, patient-centered methodologies for research and clinical trials. Across these studies, she has integrated neuroimaging, electrophysiological, behavioral, clinical, and proteomic measures. At Boston Children’s Hospital and Harvard Medical School, she is a postdoctoral fellow in the laboratory of Dr. Jaymin Upadhyay, where she studies patients with Pompe disease and Niemann-Pick disease type C.