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Title: What Do Your Pompe Test Results Really Mean? The Evolution of Pompe Diagnostics: Past, Present, and Future
Date: Thursday, August 20, 2026
Time: 1 p.m. CT / 2 p.m. ET
Speaker:
Deeksha Bali, PhD, FACMG
Summary:
This webinar examines 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. diagnosis in the newborn screening era, drawing on lessons learned since implementation and the growing challenge of novel variants identified each year. It highlights the role of CRIM testing, GAA enzymeA protein that helps the body carry out chemical reactions. and mutationA change in a gene that can affect how it works. analysis, and urine Hex4 biomarkerA measurable sign in the body that helps track disease progression or treatment response. testing in achieving early, accurate diagnosis. The talk underscores an urgent need for a validated, disease-specific functional assay to characterize variants of unknown significance and support their reclassification, benefiting newly diagnosed patients. It also points to the promise of understanding Pompe disease’s molecular mechanisms to predict disease onset and progression and guide treatment decisions, an unmet need for patients identified through newborn screening.

Title: Mental Health for Pompe Disease: The Importance of Being Understood
Date: Thursday, May 14, 2026
Speakers:
Heather Shorten
Nadia Bodkin, Pharm. D., MS
JC Muyl

Summary:
Living with Pompe disease means navigating far more than the physical realities of a complex, progressive condition. The emotional and psychological toll, including the uncertainty, the isolation, and the challenge of finding care that truly sees the whole person, is a dimension of this journey that is too often left unaddressed. This webinar brings together three advocates at the forefront of mental health and rare disease: Heather Shorten of Pompe Alliance, Nadia Bodkin of the Rare Advocacy Movement, and JC Muyl of Mental Health For Rare.

Drawing on community research and lived experience, our presenters will explore the unique emotional challenges tied to living with Pompe disease, why feeling understood matters so deeply, and what meaningful mental health support can look like for this community. Whether you are a patient, caregiver, healthcare provider, or advocate, this is an opportunity to be part of an important and long-overdue conversation about whole-person care in the Pompe disease community.

Title: Immune ResponsesThe body's natural defense system reacting to substances it sees as foreign, including treatments like enzyme replacement therapy or gene therapy. to AAVA harmless virus commonly used as a delivery system in gene therapy to carry healthy genes into cells. Gene TherapyA developing treatment that aims to fix, replace, or add genetic instructions.: Challenges and Emerging Solutions
Date: Thursday, April 23, 2026
Time: 12 p.m. CST / 1 p.m. EST
Speaker:
Abigail Benkert, MD

Summary:
Immune responses to AAV gene therapy remain a major barrier to its access and effectiveness. This talk will highlight key immune challenges and emerging strategies to overcome them, including antibody-cleaving enzymes and novel capsids designed to evade pre-existing immunity.