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Nov. 4: Metabolism & Lysosomal Storage Diseases SIG Webinar
Includes a Live Web Event on 11/04/2026 at 12:00 PM (CST)
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Presented by:
NSGC Metabolism & Lysosomal Storage Diseases SIG
1. Billie Lianoglou, ScM, CGC
Learning Objectives:
1. Describe the clinical rationale and emerging evidence supporting prenatal intervention for severe monogenic disorders, with a focus on in utero enzyme replacement therapy for lysosomal storage diseases.
2. Review the design, implementation, and interim outcomes of the PEARL Trial, including patient selection, procedural considerations, and early safety and efficacy findings.
3. Recognize benefits and limits related to prenatal administration of AAV9 gene insertion for GM1 gangliosidosis including data from the pediatric experience and rationale for moving the intervention to the prenatal period.
4. Discuss the role of the UCSF Center for Genome Surgery in integrating genomic diagnosis, therapeutic development, and clinical translation to expand access to precision therapies for patients with rare genetic diseases.
5. Highlight emerging opportunities and challenges for genetic counselors as prenatal genomic therapies move from research into clinical practice.
Billie Lianoglou, ScM, CGC
Ms. Lianoglou is a genetic counselor specializing in prenatal genetic diagnosis and therapies, helping families navigate genetic diagnoses, fetal abnormalities, and reproductive risk. Her work includes outreach and enrollment for two clinical trials including in utero enzyme replacement therapy for lysosomal diseases and in utero AAV9 gene replacement for GM1 gangliosidosis at the UCSF Fetal Treatment Center. Billie is the Program Coordinator for the CGS Interventional Genomics Board weekly case conference. She also manages the CGS related study registry and database, as well as the alpha thalassemia and lysosomal storage disease patient registries.
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