Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the approved and emerging therapies for mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Yuri Maricich, MD, CMO of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies.
John Kuruvilla, MD, explores best practices for discussing possible clinical trial participation with patients with hematologic malignancies
Arezou Khosroshahi, MD, discusses the approval of Uplizna (inebilizumab-cdon) for treatment of immunoglobulin G4-related disease (IgG4-RD).
The U.S. FDA has approved belzutifan for patients with locally advanced, unresectable or metastatic pheochromocytoma or paraganglioma.
Neuroblastoma is a rare childhood cancer characterized by a neuroendocrine tumor originating in neuroblasts or neural crest progenitor cells.
Norman Putzki, MD, Novartis, discusses positive safety and efficacy data for OAV101 IT, an investigational gene therapy for SMA.
Dr. Sonal Kumar, discusses the integral role of the patient voice in navigating disease progression and determining an individualized care plan for people living with…
Gavin Lindberg details his family’s experience with neuroblastoma, provides advice to families, and discusses the EVAN Foundation.
Tenosynovial giant cell tumor (TGCT) is a rare benign tumor involving the joint synovium, bursae, and tendon sheath.
Daniel DeFabio, Global Genes and rare disease father, discusses Global Genes’ patient and advocate initiatives.
