Half of the 300 million people worldwide with a rare disease are children. They and their families often face years of uncertainty before receiving a diagnosis, only to find that treatment options are limited or nonexistent. This unmet need highlights the urgency of new research approaches that can bring hope and advance potential therapies for a patient population that has long been overlooked.
We are working to better understand and treat pediatric rare diseases which have no approved targeted therapies with a focus on pediatric sarcomas, such as rhabdomyosarcoma and osteosarcoma, and neurofibromatosis type 2 (NF2). We are advancing investigational therapies designed to shrink or eliminate tumors in all three of these disease areas, and in the case of pediatric sarcomas we are also focused on understanding and treating metastasis. Approximately 90% of cancer deaths are attributable to metastatic disease, rather than the primary tumor.
We are also partnering with world-class researchers in the Undiagnosed Disease Network to identify treatment options for patients harboring rare and extremely debilitating genetic mutations.
IBRI’s pediatric rare disease research combines specialized technological capabilities with strong research partnerships. Research on pediatric sarcomas is supported by our collaborations with leading pediatric oncology centers, including the Princess Máxima Center, the Children’s Cancer Therapy Development Institute, and the Grasshopper Consortium. Leveraging our iPSC platform, we are able to generate patient-derived cell models to study the molecular drivers of rare diseases and test potential new therapies.
Complementing this work, IBRI applies bioinformatics and structural biology to map disease pathways, and kinome profiling to identify dysregulated signaling networks. Together, these technologies enable a systematic research progression from disease pathology to the discovery of potential new therapies.
Our advanced iPSC platform enables us to generate brain cell models from reprogrammed human blood or skin cells
