by Madaline Spencer | Dec 4, 2024
Jack Johnson, Co-Founder and Executive Director of the Fabry Disease Support and Information Group, and VP of the Fabry International Network, discusses the phase 3 BRIGHT study testing Elfabrio (pegunigalsidase alfa-iwx) in patients with Fabry disease. ...
by Madaline Spencer | Dec 3, 2024
Reena Sharma, MD, Salford Royal Hospital and University of Manchester, UK, discusses clinical data from a clinical trial testing an AAV gene therapy in patients with Gaucher disease. Clarification (around 8:52): *malignancies Gaucher disease refers to a group...
by Madaline Spencer | Dec 2, 2024
Christine Eng, MD, Chief Medical Officer at Baylor Genetics, discusses how whole genome sequencing can lead to early diagnosis and intervention. At the 2024 International Consortium on Newborn Sequencing (ICoNS), Baylor Genetics presented findings from...
by Madaline Spencer | Nov 27, 2024
Sofia De la Garza, advocate and mother of a patient with Vascular Ehlers-Danlos syndrome (VEDS), discusses her diagnosis as well as her work in advocacy. VEDS is an inherited connective tissue disorder that is caused by defects in collagen. It is...
by Madaline Spencer | Nov 26, 2024
Anne Marie Morse, DO, of Geisinger Health, discusses the U.S. Food and Drug Administration (FDA) approval of Lumryz (sodium oxybate) for the treatment of cataplexy or excessive daytime sleepiness in patients with narcolepsy ages 7 years and older. ...
