MPS MASTERCLASS 2026
From Genes to Bedside: Essential Training for Young Physicians
June 3rd, 2026
One-Day Intensive Program
PROGRAM OVERVIEW
This intensive one-day masterclass provides early-career physicians with comprehensive knowledge of mucopolysaccharidoses (MPS), from basic pathophysiology to contemporary management strategies. The program emphasizes clinical recognition, diagnostic approaches, and evidence-based therapeutic interventions, complemented by patient and family perspectives.
TARGET AUDIENCE
- Young physicians entering the field of rare genetic diseases
- Pediatricians and internists managing MPS and RD patients
- Medical students and residents interested in metabolic disorders
- Specialists seeking comprehensive MPS and RD knowledge
- Healthcare professionals in multidisciplinary patient care
EXPERT FACULTY
This masterclass is led by internationally recognized experts in research, diagnosis, and clinical management. Faculty members represent multidisciplinary key opinion leaders in the field.
KEY TOPICS & LEARNING OBJECTIVES
Foundation
Understanding the biochemical basis of mucopolysaccharidoses and related diseases, enzyme deficiencies, and cellular accumulation patterns; laboratory diagnostic methods including urinary glycosaminoglycan analysis, enzyme assays, and genetic testing.
Clinical Recognition
Comprehensive review of multi-system manifestations including cardiac, respiratory, neurological, orthopedic, ophthalmologic, and otolaryngologic features; recognition of disease-specific phenotypes; strategies for early diagnosis and family counseling.
Diagnostic Approaches
Advanced imaging strategies including neuroimaging, echocardiography, and endoscopy; interpretation of imaging findings in clinical context; newborn screening implementation and follow-up protocols
Treatment & Management
Current therapeutic options including enzyme replacement therapy, substrate reduction therapy, and hematopoietic stem cell transplantation; patient selection criteria; emerging gene therapy approaches; management of infusion reactions and perioperative complications.
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Patient-Centered Care
Understanding the impact of MPS and related disorders on patients and families; shared decision-making; treatment access and advocacy; comprehensive, multidisciplinary care coordination
REGISTRATION
Registration for this educational activity is free of charge.
An application for EACCME accreditation will be submitted for this educational activity.