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Credit Designation

Physicians' Education Resource®, LLC is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Physicians' Education Resource®, LLC designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

ACMG will apply for Continuing Education Units (CEU’s) for Genetic Counselors from the National Society of Genetic Counselors (NSGC) and Continuing Education Units from the Professional Acknowledgment for Continuing Education (P.A.C.E.®) program of the American Society for Clinical Laboratory Science for an estimated 1.5 credits for the live initiative.

Acknowledgment of Commercial Support

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

Cases and Conversations: Patient-Minded Approaches to Managing Fabry Disease

Cases and Conversations: Patient-Minded Approaches to Managing Fabry Disease

Tuesday, March 17, 2020

Dinner and Registration: 5:30 PM-6:00 PM
Scientific Session: 6:00 PM-7:30 PM

Grand Hyatt San Antonio Hotel
Lone Star Ballroom ABC, 2nd Floor
San Antonio, TX


Fabry disease is a rare, genetic, X-linked lysosomal storage disorder caused by absence or deficiency of the enzyme alpha-galactosidase A (α-GAL A), resulting from mutations in the GLA gene. Glycosphingolipids (Gb3 or lyso-Gb3) accumulate in the lysosomes of a variety of cells, including small blood vessels, kidneys, heart, and nervous system. This progressive lipid accumulation causes cell damage, leading to tissue remodeling, fibrosis, ischemia, and organ dysfunction. Due to the consequences of Fabry disease, early diagnosis is extremely vital in patients so effective treatment can be started. Delays in the diagnosis of Fabry disease have been attributed to the insidious development of the disease. Health care professionals often do not recognize the different manifestations of Fabry disease. The discussion will use a series of cases to foster discussion of new data and sharing of best practices that address unmet needs in Fabry disease.

Acknowledgement of Commercial Support

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

Target Audience

This educational program is directed toward geneticists, genetic counselors, pediatricians, endocrinologists, primary care physicians, nurses, nurse practitioners, physician assistants, and other health care professionals who are involved in the care of patients with Fabry disease.

Learning Objectives

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

  • Review the varied spectrum of phenotypic presentation and underlying genotypes in patients with Fabry disease
  • Discuss appropriate testing in the workup of patients with Fabry disease and confirmation of disease-causing GLA mutation
  • Evaluate the efficacy and safety of ERT and small molecule chaperone therapies and the treatment selection for patients with specific genotypes of Fabry disease
  • Apply clinical trial evidence and testing information to optimize the management of patients with Fabry disease

Program Chair

Dawn Jacob Laney
Dawn Jacob Laney, MS, CGC, CCRC
Assistant Professor/Genetic Counselor
Director, Emory Genetic Clinical Trials Center
Program Leader, Emory Lysosomal Storage Disease Center
Emory University
Atlanta, GA


  • Register for this symposium when you register for the ACMG Annual Clinical Genetics Meeting at http://bit.ly/CCFabry19.
  • If you have already registered for the ACMG meeting and you did not select this symposium when you registered, you may log into your record and add the session - see instructions in registration confirmation email.

Register Now

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