5th Annual Robert J. Gorlin Symposium
Global Access to Newborn Screening: A Call to Action!
Thursday, February 5, 2026
17:45 – 19:00 PST
1.25 Hour CE Session*
Overview: There is tremendous global variation in access to newborn screening (NBS), even at the state or province level within individual countries, like the United States and Canada. With the dissolution of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) in the United States, there is a no longer a federal entity reviewing research and recommending additions to the Recommended Uniform Screening Panel (RUSP) a list of conditions for which every newborn in the U.S. should be screened. There is an opportunity for other entities to step up to fill the void, and a coordinated and focused effort will be needed. In addition, the U.S. can learn from other countries that have different perspectives on NBS, including implementing NBS for all diseases which “check all the boxes”, and even broader genome screening. This session will bring together international stakeholders to identify barriers, discuss opportunities, and identify practical solutions to help inform international changes for global NBS going forward
Format: Expert panel interviews and discussion with focused questions intended to address the stated issues. The session will conclude with audience Q&A.
Symposium Agenda:
17:45 Welcome and Introduction of Faculty
17:50 Focused Interview Questions for Faculty with Panel Discussion
18:45 Open Audience Q&A
19:00 Adjourn
Course Director and Co-Chair:
Jeanine Jarnes, PharmD
MSc Pharmacogenomics
Board Certified Pharmacotherapy Specialist
Board Certified Oncology Pharmacist
Assistant Professor, Department of Pediatrics
University of Minnesota Medical School
Pharmacotherapy for Inherited Metabolic Diseases
Advanced Therapies Department
College of Pharmacy, Experimental and Clinical Pharmacology
Minneapolis, MN
Co-Chair:
Amy Gaviglio, MS, CGC
Genetics and Public Health Consultant
Newborn Screening and Genetics
Minneapolis, MN
Faculty:
Simon Jones, MBChB
Consultant in Paediatric Inherited Metabolic Disease
Professor, The University of Manchester
Manchester, UK
Maria Kefalas, PhD
Founder, The Calliope Joy Foundation
Educator, advocate, and author
Bala-Cynwyd, PA
Andreas Øberg, MD
Norwegian National Unit for Newborn Screening,
Division of Pediatric and Adolescent Medicine,
Oslo University Hospital,
Oslo, Norway
Melissa Wasserstein, MD
Chief, Division of Pediatric Genetic Medicine
Professor of Pediatrics and Genetics
Raizin Distinguished Faculty Scholar in Pediatrics
The Children’s Hospital at Montefiore
The University Hospital for Albert Einstein College of Medicine
Bronx, NY
Learning Objectives:
At the end of this session, participants will be able to:
- Identify global differences that exist in criteria for implementing newborn screening (NBS) and which geographic regions have implemented NBS, and which have not.
- Identify how uniform newborn screening helps address the unmet medical needs of patients with lysosomal diseases.
- Define barriers to implementing newborn screening for lysosomal diseases (LDs) and propose practical solutions to overcome them.
- Recognize which lysosomal diseases currently ‘check all the boxes’ to meet established criteria for newborn screening, based on laboratory technology, administrative infrastructure, and clinical care.
- Describe how adopting a genomic approach to NBS could reduce barriers to implementation, transform LD research, enable more timely treatment, and improve patient outcomes.
* This optional CE Session is available for In-Person registrants and will be included in the On Demand recording. Registration required and additional fees apply. Early Registration Rates end January 5, 2026. CE credit is available to Live and On Demand attendees. NSGC credit is available to Live attendees only. NSGC credit is not available for the On Demand program.
Past Symposium Topics
The Annual Robert J. Gorlin Symposium is an exciting event designed to address some of the most challenging or controversial issues in lysosomal diseases.
Past topics have included:
- Precision Metrics for Cognition
- Precision Medicine: A Multidisciplinary Approach
- Beyond the Blood Brain Barrier: Strategies for Treating the CNS
- And the dramatic and inspiring 2025 program: The Situation Room: Gene Therapy in the Real World
Educational Support Opportunity
Educational Support Opportunity! WORLDSymposium is seeking educational grant support, from one or more commercial organizations, for the 5th Annual Robert J. Gorlin Symposium. This 75-minute educational session will be on Thursday, February 5, from 17:45 – 19:00 PST as part of the 22nd Annual WORLDSymposium. In addition, the session recorded and offered as part of the On Demand program through March 13, 2026.
As a CE session, this symposium will follow all ACCME Guidelines and Standards for Integrity and Independence. If your organization is interested in providing educational grant support for this session, please contact Dawn Saterdalen at dawn.saterdalen@saterdalen.com.
This activity is jointly provided by Medical Education Resources and WORLDSymposium.
This activity is supported, in part, by educational grants from BioMarin Pharmaceutical Inc., Chiesi USA, Inc., Denali Therapeutics, Takeda Pharmaceuticals USA, Inc., and Ultragenyx Pharmaceutical Inc.
Joint Accreditation Statement:
In support of improving patient care, this activity has been planned and implemented by Medical Education Resources (MER) and WORLDSymposium. MER is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Interprofessional Continuing Education (IPCE):
This activity was planned by and for the healthcare team, and learners will receive 1.25 Interprofessional continuing Education (IPCE) credit for learning and change.
Physician Credit:
Medical Education Resources designates this live activity for a maximum of 1.25 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Nursing Credit:
Medical Education Resources designates this live activity for a maximum of 1.25 ANCC nursing contact hours. Nurses will be awarded contact hours upon successful completion of the activity.
Medical Education Resources is a provider of continuing nursing education by the California Board of Registered Nursing, Provider #CEP 12299, for 1.25 contact hours.
About Robert James Gorlin, DDS, PhD
The Annual Robert J. Gorlin Symposium honors the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was a geneticist, maxillofacial pathologist, and academician at the University of Minnesota School of Dentistry. Spanning over 50 years, his groundbreaking research in genetic disorders of the head and neck revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders.
View previous Robert J. Gorlin Symposium agendas and speakers.