Unlocking the cellular 'traffic jam' of Danon disease: how global natural history data is paving the way for life-saving gene therapy to stop heart failure in its tracks.
All tagged lysosomal storage disorder
#388 From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey
Siblings Dan and Faith share their family’s experience with Sialidosis; from the decade-long hunt for a diagnosis to the groundbreaking research they are involved in.
#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
In the pilot episode of Gene Pool Media’s newest podcast Rare Rebels, parent Mark Dant shares how grassroots advocacy and a scientist’s persistence reshaped rare disease drug development.
#376 Why Females with Fabry Disease Aren’t “Just Carriers”
Clinical geneticist Dr. Amy Kritzer reveals why Fabry disease looks so different across sexes and what that means for diagnosis and treatment.