Date & Location
Thursday, December 8, 2022, 10:00 AM - 3:30 PM PST
Cedars-Sinai Advanced Health Science Pavilion Educational Center, Los Angeles, CA

Target Audience
Specialties - Hematology, Internal Medicine, Medical Genetics, Pediatrics

Overview
Genetic deficiencies of lysosomal components, most commonly enzymes, are known as "lysosomal storage disorders" (LSDs) and lead to lysosomal dysfunction, broadly affecting peripheral organs and the central nervous system, debilitating patients and frequently causing fatality. This continuing medical education conference will update members of the multidisciplinary care team on most recent advances in identification, diagnosis, pathophysiology, management and treatment of a wide range of lysosomal storage disorders. The theme of the course is translation of scientific breakthroughs to the bedside. Expert faculty will present various clinical cases for discussion as well as the latest advances and clinical updates on various LSDs.

Objectives

1. Apply knowledge of scientific advances in diagnosis, early intervention and treatment modalities to ensure optimal outcomes for patients.
2. Examine the variability in the clinical presentations of Gaucher Disease.
3. Discuss the role of the genetic counselor and indications for genomic screening and counseling for patients with lysosomal storage disorders.