Gaucher Disease:
The Evolving Big Picture

2-Part CE Satellite Symposium

Program Overview

Program Overview:

Although Gaucher disease is one of the most widely known of the lysosomal diseases and treatments are available, there is still so much that needs to be addressed. This 2-part CE satellite session focuses on key issues with Gaucher disease (GD) that require ongoing discussion, research and attention. The goal is to raise awareness of the current challenges in GD diagnosis and lifelong management, and provide a forum for discussion for future changes.

PART I: Unmet Needs and Redefining the GD Spectrum

Tuesday, February 6
11:45 AM – 12:45 PM
Grand Hall AB

The first part addresses the role of inflammation in GD, the evolution of the natural history of GD including the need to redefine beyond types I, II and III, and how to manage neuronopathic GD, followed by a panel discussion.

PART I: Agenda

11:45 AM Welcome and Introduction Uma Ramaswami
11:48 AM Perspectives on the Delineation of Gaucher Disease Variants Greg Grabowski
12:00 PM Glucocerebrosidase Dysfunction: Pathobiology Beyond Lipid Storage Reena Kartha
12:15 PM Do We Really Know How to Manage Neuronopathic Gaucher Disease Ozlem Goker-Alpan
12:30 PM Wrap Up Day 1; Set the Stage for Part II Uma Ramaswami
12:35 PM Q&A and Discussion Faculty
12:45 PM Adjourn

PART II: Gaucher Disease Across the Lifespan

Wednesday, February 7
11:45 AM – 12:45 PM
Grand Hall AB

The second part of this session covers the challenges and opportunities for newborn screening (NBS), what to do after GD is identified on NBS, what discussions need to occur during management of GD during pregnancy, and concludes with a panel discussion.

PART II: Agenda

11:45 AM Introduction Uma Ramaswami
11:50 AM Patient Advocate and Carer Perspective Tanya Collin-Histed
12:00 PM NBS for GD in the United States: Status and Needs Across the Patient’s Lifetime Amy Gaviglio
12:10 PM Challenges in Interpreting GBA1 genotyping Nahid Tayebi
12:20 PM Implications for Pregnancy, Gaps in Knowledge, Future Directions Priya Kishnani
12:30 PM Wrap Up: Tying All the Pieces Together Uma Ramaswami
12:35 PM Q&A and Discussion Faculty
12:45 PM Adjourn

Target Audience:

This activity is intended for healthcare professionals involved in the screening, diagnosis, management, and treatment of lysosomal diseases affecting both children and adults, with research and clinically relevant information geared specifically to the following professionals: medical and clinical geneticists; genetic counselors; pediatricians; neurologists; psychologists; nurse practitioners; physician assistants; and patient advocates.

Learning Objectives:

  1. Delineate the potential issues in diagnosing GD, follow-up testing, and initiation of therapy.
  2. Discuss recent guidelines for identification and management of GD.
  3. Outline appropriate strategies for management based on the patients stage in life, including newborns, pediatrics, elderly patients and management during pregnancy.
  4. Define the emerging treatments for Gaucher disease, differentiating for whom and when these treatments should be considered.
  5. Elucidate the role of inflammation and the importance of biomarkers for monitoring therapies that address inflammation.
  6. Identify biomarkers of neuronal disease and apply them in monitoring progression in patients.
  7. Discuss the evolution of the natural history of GD and initiate discussions on redefining Gaucher disease beyond types I, II and III.
  8. Define the evolving approach in managing type 3 Gaucher disease, including recent therapeutic advances.


Uma Ramaswami, FRCPCH, MD (Chair)

Royal Free London
NHS Foundation Trust
London, United Kingdom

Gregory A. Grabowski, MD

Cincinnati Children’s Hospital
Research Foundation
Cincinnati, OH, United States

Reena Kartha, MS, PhD

University of Minnesota
Minneapolis, MN, United States

Ozlem Goker-Alpan, MD

Lysosomal and Rare Disorders
Research & Treatment Center, Inc.
Fairfax, VA, United States

Tanya Collin-Histed

International Gaucher Alliance
London, United Kingdom

Amy Gaviglio, MS, CGC

4ES Corporation
Centers for Disease Control and Prevention
Minneapolis, MN, United States

Nahid Tayebi, PhD

MGB, NHGRI, National Institutes of Health
Bethesda, MD, United States

Priya S. Kishnani, MD

Duke University Medical Center
Durham, NC, United States

CE Accreditation:

This activity is jointly provided by Postgraduate Institute for Medicine and Saterdalen & Associates, LLC.

Joint Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and Saterdalen & Associates, LLC. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Medical Education

The Postgraduate Institute for Medicine designates this live activity for a maximum of 2.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Continuing Nursing Education

The maximum number of hours awarded for this Continuing Nursing Education activity is 2.0 contact hours.

Provider approved by the California Board of Registered Nursing, Provider Number 13485, for 2.0 contact hours.

Faculty Disclosure & Information:

  • Participants must attend both days to receive 2.0 hours of credit.
  • This activity is not available for CEU credits for Genetic Counselors.
  • There is no additional fee to attend this satellite symposium.
  • Download Faculty Disclosures (PDF).

Grant Support

This activity is supported by an independent educational grant from Takeda Pharmaceuticals, U.S.A., Inc.

Evaluation Instructions:

CE Credit and Certificates

Click here: CME University

Username: Your Email
New User Password: WORLD!
Course Code: 18084

Download Instructions (PDF)

Step 1

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Complete Evaluation

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  5. Complete the online Evaluation Form.

Upon completion of each online Evaluation form, you will have immediate access to a certificate to print or save for your files.

If you have any questions regarding the certification for these activities, please contact Postgraduate Institute for Medicine at: or (303) 799-1930.