Risdiplam’s Mechanism of Action 

   Dalia Moawad, MD, Executive Director, Head of Neurological Rare Diseases, Medical Affairs at Genentech, discusses the mechanism of action of risdiplam (Evrysdi), a drug indicated for the treatment of spinal muscular atrophy (SMA) in SMA1 patients 2 months and...

How Duke University Has Led Pompe Disease Research

  Priya Kishnani, MD, Chief, Division of Medical Genetics and Professor of Pediatrics at the Duke University School of Medicine, discusses the Duke Health Rare Disease Center’s work in Pompe disease.  Pompe disease is a rare inherited lysosomal storage disorder...

Using Gene Therapy to Treat GM1 Gangliosidosis

  Mark Forman, MD, PhD, Chief Medical Officer at Passage Bio, discusses the mechanism of action of PBGM01, an investigational gene therapy for infantile GM1 gangliosidosis. GM1 gangliosidosis is an inherited lysosomal storage disorder caused by mutations in the...

What Is ENPP1 Deficiency?

  Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives an overview of ENPP1 deficiency. The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), which...