This symposium, led by Ozlem Goker-Alpan, MD of the Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), reviews the current state of newborn screening (NBS) for lysosomal disorders and the need for newer guidelines to address the many unmet needs.
Only a small portion of lysosomal disorders are currently included in NBS panels (e.g., Pompe disease, MPS I, MPS II). This symposium provides an overview of the criteria for being part of newborn screening panels and explains why other lysosomal disorders should be considered (i.e., Gaucher disease, Fabry disease). The symposium also discussed best practices to inform parents about positive NBS results as well as some of the new data coming from NBS studies that is changing the way we explain disease prevalence and disease progression.
Speakers in the symposium include:
- Ozlem Goker-Alpan, MD, Founder and Chief Medical Officer, LDRTC, Fairfax, VA
- Amy Gaviglio, MS, CGC, Certified Genetic Counselor, Connetics Consulting, Minneapolis, MN
- Gustavo Maegawa, MD, PhD, Associate Professor of Pediatrics, Columbia University Irving Medical Center, New York, NY
- David Kronn, MD, Associate Professor of Pathology and Pediatrics, New York Medical College, Valhalla, NY
- Ryan Colburn, BE, Principal, Odimm Inc, Los Angeles, CA.
To learn more about lysosomal disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/
