Fabry Disease: Overview, Diagnosis, and Personalized Treatment Plans

By: | Updated on: Sep 26, 2024

This learning page, featuring podcasts and expert interviews, focuses on Fabry disease overview, diagnosis, and personalized treatment plans.

 

 

Fabry Disease Podcast Episodes 

June 8, 2024  Length: 25 min

Fabry Disease Overview, Featuring William Burns, MD
In this first part of our three-part series on Fabry disease, we feature William Burns, MD, a biochemical geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Dr. Burns summarizes this rare disease, including current management strategies.

June 8, 2024  Length: 24 min

Signs and Symptoms of Fabry Disease, Featuring Nicola Longo, MD

This is the second of a three-part series focusing on Fabry disease. In this episode, we talk with Nicola Longo, MD, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr. Longo discusses Fabry disease, including the progression of the disease and personalized medicine.

 

June 8, 2024  Length: 15 min

Fabry Disease From a Patient’s Perspective, Featuring Maya Kineen
In this episode of our series focused on Fabry disease, we feature Maya Kineen, a patient and advocate with this rare disorder.

Videos

Fabry Disease: Overview and Diagnosis
Dr. William Burns provides an overview of Fabry disease and discusses challenges in diagnosing this rare disorder.
(Video length: 8 minutes)

Managing Fabry Disease
Dr. Burns discusses current and emerging treatment options for Fabry disease.
(Video length: 7 minutes)

Treatment Plans for Fabry Disease
Dr. Nicola Longo discusses Fabry disease progression and personalized medicine.
(Video length: 7 minutes)

Fabry Disease and Immunogenicity
Dr. Longo discusses immunogenicity and Fabry disease.
(Video length: 4 minutes)

Fabry Disease Patient Journey
Maya Kineen provides a patient’s perspective of Fabry disease, including her experience with this rare disorder.
(Video length: 4 minutes)

Patient Perspective of Fabry Disease
Maya Kineen provides her perspective of this rare disorder.
(Video length: 4 minutes)

Additional Resources

Fabry Support & Information Group (FSIG)
NIH: National Center for Advancing Translational Sciences
National Fabry Disease Foundation

To learn more about Fabry disease, visit our learning page.

Information Disclaimer

The CheckRare learning platform is designed to help users better understand rare diseases, research, and medical effectiveness. Individuals are urged to consult with qualified health care providers for specific diagnosis and treatment challenges and for answers to personal health care questions. Information on CheckRare is only intended as general summary information and to raise awareness about rare diseases and orphan drugs, current and emerging treatment options, clinical trial updates, and genetic and diagnostic testing. Users are advised to consult appropriate health care professionals for more information on any of these issues.

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