Date & Location
Thursday, December 5, 2024, 9:00 AM - 2:05 PM PST, Online, CA

Target Audience
Specialties - Cardiology, Endocrinology & Metabolism, Hematology, Internal Medicine, Medical Genetics, Neurology, Orthopaedic Surgery, Pediatrics, Rheumatology

Overview
This continuing medical education conference provides a comprehensive update on lysosomal storage disorders (LSDs) for multidisciplinary healthcare teams. LSDs are genetic conditions caused by deficiencies in lysosomal components, primarily enzymes, which lead to lysosomal dysfunction and have widespread effects on peripheral organs and the central nervous system. Participants will explore the latest advances in the identification and diagnosis of LSDs, as well as current understanding of their pathophysiology. The course will also cover updates on management strategies and treatment options, emphasizing the translation of scientific breakthroughs into clinical practice. Expert faculty will present various clinical cases for discussion, along with research updates and case reports that highlight recent developments in the field. This conference aims to enhance the ability of healthcare professionals to provide optimal care for patients with these rare but debilitating disorders, equipping attendees with up-to-date knowledge to improve early diagnosis, implement appropriate management plans, and incorporate emerging therapies into their clinical practice.

Objectives

1. Apply updated knowledge of lysosomal storage disorders to improve diagnostic accuracy, develop prognoses, contribute to research, and enhance patient care
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.