Industry Supported Satellite Symposia

Tuesday, March 10, 2026: 4:00 PM – 5:30 PM
Baltimore Convention Center: Room 339-342

Exploring the Clinical Spectrum of Hypochondroplasia: From FGFR3 Variants to Multidisciplinary Management

Provide evidence-based knowledge and skills related to the diagnosis, genetic evaluation, and management of hypochondroplasia (HCH) while improving competence in recognizing early clinical features, interpreting FGFR3 genetic test results, differentiating HCH from other skeletal dysplasias, integrating treatment strategies, and evaluate emerging therapies in development.

Learning Objectives:

• Describe the genetics and pathophysiology of hypochondroplasia, including common FGFR3 variants and their impact on bone development
• Recognize clinical features and radiologic findings characteristic of hypochondroplasia, and differentiate them from other skeletal dysplasias
• Using real-world case studies, incorporate differential diagnosis and diagnostic workup strategies
• Evaluate emerging therapeutic approaches for hypochondroplasia and current clinical trials

Faculty: 
Mahim Jain, MD, PhD, Nemours Children’s Hospital
Andrew Dauber, MD MMSc, Children’s National Hospital

Accredited

For more information and to register

Tuesday, March 10, 2026: 4:00 PM – 5:30 PM
Hilton Baltimore Inner Harbor: Holiday 6

Transforming Patient Care in MPS II

This presentation will help to educate HCPs on advances in MPS II including newborn screening and patient cases focused on initiating, switching, and monitoring treatment in patients with MPS II.

Learning Objectives:

• Overview of MPS II
• Newborn screening in MPS II
• Discuss considerations for initiating or switching treatments in MPS II

Faculty: 

Barbara Burton, MD, Ann & Robert H. Lurie Children’s Hospital of  Chicago, Feinberg School of Medicine
Paul Harmatz, MD, University of California San Francisco and UCSF Benioff Children's Hospital

Non-accredited

For more information: Coming soon

Tuesday, March 10, 2026: 4:00 PM – 5:30 PM
Hilton Baltimore Inner Harbor: Holiday 1-3

Unrestricted Disease Insights with Comprehensive Long-read Sequencing

Although exome and short-read whole genome sequencing are widely used clinically, diagnostic yield remains incomplete. This is well-recognised in rare disease but equally relevant to complex conditions. Learn how simultaneous detection of clinically signifi cant variants— complex structural variants, repeat expansions, copy number variants, methylation changes—can substantially improve diagnostic yield.

Learning Objectives:

• Unaltered DNA sequencing strategy: including comprehensive variant calling and methylation in unresolved rare disease samples 
• Ultra-rapid whole genome sequencing, from sample to prioritized variants in 24h 
• Profile genome-wide methylation and variants in complex disease

Faculty: 

Wendy Chung, MD, PhD,  Boston Children's Hospital
Monica Wojcik, MD, MPH, Boston Children's Hospital
Tjitske Kleefstra, Erasmus

Non-accredited

For more information: Coming soon

Tuesday, March 10, 2026: 4:00 PM – 5:30 PM
Hilton Baltimore Inner Harbor: Holiday 4-5

Update on Bardet-Biedl Syndrome (BBS) Diagnostic Criteria

Bardet-Biedl Syndrome (BBS) is a rare genetic condition involving Melanocortin-4-Receptor (MC4R) Pathway impairment. Traditionally BBS is a clinical diagnosis based on the Beales criteria created over 20+ years ago; this session will talk about an updated diagnostic criteria for BBS.

Learning Objectives:

• Explore genetics underlying BBS, a genetic syndromic condition
• Learn the role of genetics in diagnosing BBS in the updated criteria
• Learn to diagnose BBS taking into consideration whole patient presentation

Faculty:
TBD

Non-accredited

For more information and to register

Tuesday, March 10, 2026: 6:15 PM – 7:45 PM
Hilton Baltimore Inner Harbor: Holiday 6

Achondroplasia: Current Viewpoints on the Importance of Early Management

Hear from an expert panel as they discuss the management of complications associated with achondroplasia in young children and share their perspective based on published data and clinical experience.

Learning Objectives:

• Discuss the height deficit accumulated over time for those born with achondroplasia
• Understand the gravity of multisystemic complications experienced by infants and toddlers
• Explore each specialist’s role in managing care - geneticist, pediatric endocrinologist, maternal fetal medicine, and others
• Review the latest evidence and discuss emerging trends in managing achondroplasia

Faculty: 
TBD

Non-accredited

To Register: Please email kyle.ingham@bmrn.com

Tuesday, March 10, 2026: 6:15 PM – 7:45 PM
Hilton Baltimore Inner Harbor: Holiday 1-3

The Importance of Newborn Screening in the Early Diagnosis and Disease Management of Duchenne Muscular Dystrophy

Join Sarepta Therapeutics for a presentation exploring the implementation of Duchenne muscular dystrophy newborn screening at state level and its treatment landscape, emphasizing its clinical and policy implications. Experts will share the current diagnostic journey, evidence of early pathology, and strategies for broader adoption.

Learning Objectives:

• Increase awareness on the current status of DMD newborn screening at state and federal level
• Provide rationale for DMD inclusion on newborn screening lists including early signs and symptoms, diagnostic delay, and overview of the current treatment landscape
• Educate on state implementation strategies for integrating DMD into newborn screening programs

Faculty: 
Randal Richardson, MD, Gillette Children’s
Megan A. Waldrop, MD, Nationwide Children’s Hospital 
Sondra Rosendahl, MS, LGC; Minnesota Department of Health
Nancy Leslie, MD, Cincinnati Children's

Non-accredited

For more information: Coming soon

Tuesday, March 10, 2026: 6:15 PM – 7:45 PM
Hilton Baltimore Inner Harbor: Holiday 4-5

UCB Symposium on Thymidine Kinase 2 Deficiency

Details coming soon

Learning Objectives:

Details coming soon

Faculty :

TBD

Non-accredited
 

Wednesday, March 11, 2026: 8:00 AM - 9:30 AM
Hilton Baltimore Inner Harbor: Holiday 1-3

Advancements in Rett Syndrome (RTT) Care: Caregiver and Expert Panel Discussion

Discussion on Rett syndrome (RTT), a rare, complex neurodevelopmental disorder and an FDA-approved treatment option.

Learning Objectives:

• Review RTT diagnostic criteria and multisystem impact
• Examine clinical trial data from LAVENDER, LILAC-1, and LILAC-2, and real-world observations from the LOTUS post approval study
• Discover caregiver insights based on their experiences with RTT and DAYBUE

Faculty:
TBD

Non-accredited 
 

Wednesday, March 11, 2026: 8:00 AM - 9:30 AM
Hilton Baltimore Inner Harbor: Holiday 4-5

Preventing Long-term Disease Progression in Lysosomal Storage Disorders

Learn about disease progression trajectories in LOPD and Fabry disease patients and how to manage them, including newly published long-term data for potential treatment options in certain adult patients.

Learning Objectives:

• Review of adult LOPD and Fabry disease

• Education on disease management and potential therapeutic approaches

• Familiarization of new long-term data of potential treatment options for certain adult patients

Faculty: 
TBD

Non-accredited

For more information: Coming soon

Wednesday, March 11, 2026: 8:00 AM - 9:30 AM
Baltimore Convention Center: Room 339-342 

Case-Based Approaches in CTX, SLOS & ZSD: Pathways, Tests, and Clinical Decisions

Description: Pending

Learning Objectives:

• How to Recognize SLOS, CTX, and ZSD: Pathways and Diagnostic Testing
• From Clinical Clues to Treatment: Case Studies in SLOS and CTX Highlighting Diagnostic and Therapeutic Strategies 
• ZSD Across the Spectrum: Case Studies Highlighting Clinical Presentation, Diagnostic Challenges, and Management

Faculty:
TBD

Non-accredited 
 

Wednesday, March 11, 2026: 8:00 AM - 9:30 AM
Hilton Baltimore Inner Harbor: Holiday 6

Genetic Mirages: Navigating Pseudodeficiency in the Quest for Diagnostic Clarity

Pseudodeficiencies challenge genetic nomenclature in rare diseases by falsely suggesting deficiencies, particularly in late-onset lysosomal storage disorders. Inconsistent terminology impedes research, therapy development, and inheritance pattern understanding.

Learning Objectives:

• Understand the impact of pseudodeficiencies on genetic nomenclature and diagnosis in rare diseases, with a focus on late-onset lysosomal storage disorders.
• Recognize how inconsistent terminology affects research progress, therapy development, and comprehension of inheritance patterns in rare diseases.
• Identify and apply best practices for managing patients affected by pseudodeficiencies in rare disease contexts.

Faculty:
Lorne Clarke, FCCMG, BSc, MDCM, FRCP, University of British Columbia
Jenny Goldstein, PhD, CGC, UNC Chapel Hill
Filipp Pinto e Vairo, MD, PhD, Mayo Clinic

Non-accredited