Gene Panels: The Future for Diagnosing Rare Disease скачать в хорошем качестве

Gene Panels: The Future for Diagnosing Rare Disease

Eric Wallace, MD, University of Alabama at Birmingham (UAB) Medical Director of Telehealth, Director of the UAB Home Dialysis Program, and co-director of the UAB Fabry Disease Clinic, discusses the advantages of gene panels to diagnose rare genetic conditions, such as Fabry disease. Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. As Dr. Wallace explains, gene panelling technology has recently become available for renal diseases. Gene panels allow physicians to test multiple genes at once, reducing time and money in the diagnostic process. To learn more about Fabry disease and other lysosomal storage disorders, visit https://checkrare.com/diseases/lysoso...