Understanding Lysosomal Storage Disorders: A Comprehensive Review for Genetic Counselors

Lysosomal storage disorders, like Pompe disease, MPS1, or Fabry disease, have variation in the severity of the disease, oftentimes delaying a critical diagnosis. Genetic counselors can help the patient and parents understand the implications of their diagnosis on families. Early identification and treatment is crucial to improve patient outcomes. 

In this highly interactive education, our experts provide an overview to LSDs and answer many common questions about these disorders. Two engaging cases are presented with opportunities for audience participation. This content was recorded as a live webinar on April 8, 2020 and is now offered to you as an interactive online activity.

Learning Objectives

Upon completion of the activity, participants should be able to:

  • Describe the underlying genetic etiology and general characteristics of the LSDs
  • Identify causes of mis- and delayed diagnosis of LSDs
  • List the therapeutic options for managing LSDs


Jennifer Gannon, MD
Clinical Biochemical Geneticist
Clinical Assistant Professor of Pediatrics
University of Missouri-Kansas City School of Medicine

Rachel E. Hickey, MS, LCGC
Genetic Counselor
Ann & Robert H. Lurie Children’s Hospital of Chicago

Meghan Strenk, MS, GCG

Senior Genetic Counselor
Clinical Genetics
Children’s Mercy Kansas City

Module 1: Introduction to Lysosomal Storage Disorders

Dr. Jennifer Gannon and Meghan Strenk

Module 2: Expert Discussion

Dr. Jennifer Gannon, Rachel Hickey, Meghan Strenk

Module 3: Mucopolysaccharidosis Type 1

Rachel Hickey

Module 4: Fabry Disease

Meghan Strenk

Module 5: Key Takeaways

Dr. Jennifer Gannon, Rachel Hickey, Meghan Strenk

Purchase Type Price

  • NSGC Member: $25 (free with discount code: LSDCompCEU for the first 340 people to access this course)
  • NSCC Non-member Genetic Counselor: $25

Purchase Information

This activity is provided by the National Society of Genetic Counselors in collaboration with The France Foundation. This activity is supported by an educational grant from Sanofi Genzyme. Add this course to your cart, then complete the checkout process to gain access to this course. The first 340 people to access this course on-demand can view and complete this course for free with discount code: LSDCompCEU. 

If you are looking for CME credit or a complimentary certificate of participation, please visit www.francefoundation.com and search for LSD to complete this course. Only genetic counselor CEUs are available in the NSGC education center, linked through the store item below.

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Continuing Education

Accreditation Statement 

The France Foundation is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Genetic Counselors

The National Society of Genetic Counselors (NSGC) has authorized The France Foundation to offer up to 0.1 CEUs or 1 Category 1 contact hours for the activity Hereditary Amyloid Transthyretin Amyloidosis: Recognizing the Needle in a Genetic Haystack. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.


The France Foundation designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


Nurses who are certified by the American Nurses Credentialing Center (ANCC) may utilize activities that are certified by ACCME-accredited providers toward their requirement for certification renewal by the ANCC. A certificate of attendance will be provided by The France Foundation, an ACCME accredited provider.



In accordance with the ACCME Standards for Commercial Support The France Foundation (TFF) and the National Society of Genetic Counselors (NSGC) require that individuals in a position to control the content of an educational activity disclose all relevant financial relationships with any commercial interest. TFF and NSGC resolve all conflicts of interest to ensure independence, objectivity, balance, and scientific rigor in all their educational programs. Furthermore, TFF and NSGC seek to verify that all scientific research referred to, reported, or used in a CME/CE activity conforms to the generally accepted standards of experimental design, data collection, and analysis. TFF and NSGC are committed to providing learners with high-quality CME/CE activities that promote improvements in health care and not those of a commercial interest.

Activity Staff Disclosures

The planners, reviewers, editors, staff, CME committee, or other members at The France Foundation who control content have no relevant financial relationships to disclose.

The planners, reviewers, editors, staff, CE committee, or other members at the National Society of Genetic Counselors who control content have no relevant financial relationships to disclose.

Faculty Disclosures

The faculty listed below report that they have no relevant financial relationships to disclose:

  • Jennifer Gannon

The following faculty report that they have relevant financial relationships to disclose:

  • Rachel Hickey is a member of the Speaker’s Bureau for Takeda.
  • Meghan Strenk is a member of the Speaker’s Bureau for Genzyme.


TFF and NSGC require CME/CE faculty (speakers) to disclose when products or procedures being discussed are off label, unlabeled, experimental, and/or investigational, and any limitations on the information that is presented, such as data that are preliminary, or that represent ongoing research, interim analyses, and/or unsupported opinion. Faculty in this activity may discuss information about pharmaceutical agents that is outside of US Food and Drug Administration approved labeling. This information is intended solely for continuing medical education and is not intended to promote off-label use of these medications. TFF and NSGC do not recommend the use of any agent outside of the labeled indications. If you have questions, contact the Medical Affairs Department of the manufacturer for the most recent prescribing information.


The France Foundation and the National Society of Genetic Counselors present this information for educational purposes only. The content is provided solely by faculty who have been selected because of recognized expertise in their field. Participants have the professional responsibility to ensure that products are prescribed and used appropriately on the basis of their own clinical judgment and accepted standards of care. The France Foundation, the National Society of Genetic Counselors, and the commercial supporter(s) assume no liability for the information herein.


Copyright © 2020 The France Foundation. Any unauthorized use of any materials on the site may violate copyright, trademark, and other laws. You may view, copy, and download information or software ("Materials") found on the Site subject to the following terms, conditions, and exceptions:

  • The materials are to be used solely for personal, noncommercial, informational and educational purposes. The materials are not to be modified. They are to be distributed in the format provided with the source clearly identified. The copyright information or other proprietary notices may not be removed, changed, or altered.
  • Materials may not be published, uploaded, posted, transmitted (other than as set forth herein), without The France Foundation's prior written permission.


The France Foundation protects the privacy of personal and other information regarding participants and educational collaborators. The France Foundation will not release personally identifiable information to a third party without the individual's consent, except such information as is required for reporting purposes to the ACCME.

The France Foundation maintains physical, electronic, and procedural safeguards that comply with federal regulations to protect against the loss, misuse or alteration of information that we have collected from you.

Additional information regarding The France Foundation’s Privacy Policy can be viewed at http://www.francefoundation.com/privacy.


If you have questions about this CME activity, please contact The France Foundation at 860-434-1650 or info@francefoundation.com.

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