Cases and Conversations: Exploring the Implications of Variants of Unknown Significance (VUS) in Fabry Disease

Wednesday, April 14, 2021

Live, Interactive Virtual Webcast!

8:00 AM – 9:30 AM EST

Overview

Fabry disease is a devastating, rare, X-linked lysosomal storage disease (LSD) resulting from pathogenic mutations in the alpha-galactosidase A gene (GLA). GLA mutations are thought to cause absence or functional deficiency of the GLA enzyme, alpha-galactosidase A (alpha-GAL A), which leads to progressive accumulation of glycosphingolipid substrates in the lysosomes of various tissues. A wide variety of clinical manifestations and phenotypes with potentially life-threatening complications develop, creating a considerable disease burden in this patient population.

The aim of this educational event is to expand the knowledge of geneticists, genetic counselors, and other health care professionals to include current findings in Fabry disease diagnosis and treatment. Increased understanding of the clinical and genetic features of the disease, effective diagnostic methods and diagnostic challenges, and the efficacy and limitations of treatment options is crucial to optimizing outcomes in this patient population.

Benefits of Attending

• Examine the genotypic and phenotypic spectrums of Fabry disease
• Review diagnostic evaluations and awareness of evidence-based guidelines for diagnosis, monitoring, and specialist referral
• Evaluate the efficacy and safety of emerging therapies for Fabry disease

Acknowledgment of Commercial Support

This activity is supported by an educational grant from Amicus Therapeutics, Inc.

Target Audience

This educational program is directed toward geneticists, genetic counselors, pediatricians, endocrinologists, primary care physicians, nurses, nurse practitioners, and physician assistants who treat patients with Fabry disease. Other health care professionals interested in the treatment of Fabry disease are also invited to participate.

Learning Objectives

Upon completion of this activity, participants will be able to:

• Describe the known pathophysiological mechanisms involved in Fabry disease, particularly the role of both typical and atypical genetic mutations in determining disease phenotype
• Recognize the clinical features of both classic Fabry disease and nonclassic disease variants, including disease-related organ complications and other clinical implications
• Select appropriate screening and diagnostic assessments for early disease recognition and incorporate evidence-based guidelines for monitoring and referral into clinical decision-making
• Apply knowledge of data from research studies evaluating currently available treatments, while considering their appropriateness for individual patients based on genotype, phenotype, family history, gender, and disease severity

Program Chair

Registration

2 Ways to Register

1. Online: click here.
2. Phone: Please call (888) 949-0045 or (609) 378-3701.

This symposium will be offered as part of the ACMG Annual Clinical Genetics Meeting – A Virtual Experience. To attend this symposium or view it on demand you must be registered for the ACMG Meeting. Pre-registration for the symposium is not required. To learn more and to register for the ACMG Meeting please visit www.acmgmeeting.net.

Physicians' Education Resource^®
2 Clarke Drive
Suite 110
Cranbury, NJ 08512
 
Registration Fee - Free

For registration assistance, please email info@gotoper.com, or call (888) 949-0045 or (609) 378-3701.

Physicians' Education Resource^®, LLC reserves the exclusive rights to all recordings or reproductions of the conference and supporting materials. Unauthorized recording, by any means, is expressly prohibited.  This includes, but is not limited to, recording of presentations or reproductions of supporting audio/visual materials, exhibits, and other supporting Continuing Education materials.

Meeting information is accurate at the time of posting.