
Scientific Topics
Topics for the scientific portion of the conference are presented by world renown experts.
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Liver tumor pathology of GSD Ia
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Renal pathology of GSD Ia
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Gene therapy for GSD Ia: clinical updates
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Gene therapy for GSD Ia: preclinical updates
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Gene therapy for GSD Ia: preclinical updates
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mRNA therapy for GSD Ia
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Mechanism by which SGLT2 inhibitors block 1,5-AG renal reabsorption
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Can empagliflozin lower blood 1,5-anhydroglucitol in the absence of glucosuria
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Repurpose of Dapagliflozine to treat neutropenia in children and adults with GSD1b. Experience from from one French centre.
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Efficacy and safety of empagliflozin in GSDIb: data from an international questionnaire and future directions
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Liver transplantation in GSD Ib: a case presentation and overview of the literature
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Newborn screening and experience to date
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mini-COMET study (neoGAA)
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Longterm issues in IOPD
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Immune issues in IOPD
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Updates on gene therapy for late-onset Pompe Disease
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Animal model links between hepatic tumor and metabolism
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Emerging therapies for GSD III
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GSD III natural history and multidisciplinary care
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The role of liver transplant in GSD IV
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The management and treatment of GSD IV from a caregiver's perspective
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Small molecules as novel therapeutics for Adult Polyglucosan Body Disease: from bench to bedside
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Adult Polyglucosan Body Disease: 1991-2021
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Glycogen synthase downregulation as a potential therapeutic for APBD
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Preclinical natural history of GSD IV/APBD
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McArdle App Development
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Retinal Disorders GSD V
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Ketogenic diet in GSD V
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Reneo Clinical Trial GSD V
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CPG GSD V & VII
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Dominant PYGM family
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Lessons learned from preclinical models of GSD VI and IX
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Learnings from liver biopsy findings in patients with GSD IX ( was it also GSD VI)? , also review of the literature to understand the clinical course of the disease
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GSD IX y2 case study
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Review of the USA GSD VI and IX guidelines and how they have helped with patient management
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Comparison of UK Practice to the USA GSD VI/IX Guidelines
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Metabolic syndrome and cortisol metabolism dysregulation in GSD I - focus on pathology and biomarkers
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Use of CGMS to inform nutritional decisions
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Use of CGMS to improve metabolic control (I, III, IX cases)
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CGMS to titrate Glycosade & Empaglioflozin
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Continuous glucose monitoring with emphasis on GSD Ib
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Role of CGM in management of GSD VI and IX
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New insights into growth in GSD: contributing factors, assessment methods, and management techniques
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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver GSDs?
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Genomic analysis in the diagnosis of glycogen storage diseases
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Preclinical models for GSD I: opportunities and challenges
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Update on New York State Newborn Screening for Pompe Disease: Testing and Outcomes
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Not-So-Basic Genetics: How Genetic Diagnosis of GSD Informs Clinical Care
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Methods for High-throughput functional characterization of variants of uncertain significance for GSDs
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Identifying missing GSD IX variants using new sequencing and gene editing technologies