BUILDING RESOURCES FOR DISCOVERY AND TREATMENT: THE INSIGHT-HD BIOBANKING INITIATIVE FOR PEDIATRIC BONE MARROW FAILURE AND MYELODYSPLASTIC SYNDROMES

Background and Aims: Pediatric bone marrow failure (BMF) and myelodysplastic syndromes are rare blood disorders with limited therapeutic options and many patients lacking genetic diagnosis. We describe the INSIGHT-HD protocol, our local biobanking initiative designed to advance understanding of rare hematological diseases through specimen collection, clinical phenotyping, and resource development. This protocol enables discovery of novel disease genes, supports therapeutic development including iPSC-based gene editing approaches, and facilitates correlative studies.