Rare Disease Program for Pediatric Cancer

1. Establishing infrastructure for genomic research on rare pediatric diseases & identifying/diagnosing newly discovered undiagnosed diseases/disorders
2. Discovering and applying therapeutic substance for rare diseases through mechanism research linked to basic life sciences
3. Leading the future of healthcare by building & sharing standardized clinical genomic databases
4. Training experts in the field of rare pediatric diseases

In 2021, the family of the late Samsung Chairman Mr. Lee Kun-hee donated to the Seoul National University Children’s Hospital for the purpose of overcoming childhood cancer and rare diseases. To uphold our donors’ noble intention, Seoul National University Hospital launched the Lee Kun-hee Childhood Cancer & Rare Disease Project. The project funds allow us to analyze entire genomes of the child patients with rare diseases that have not been diagnosed by conventional testing methods, as well as the genomes of their parents. This is done by performing trio based whole exome sequencing (WES) on the blood samples collected from the patients and their parents and analyzing the results. The project enables us to actively seek the causative gene to help diagnose the patient, study the function of the gene, and thereby laying the foundation for future treatment. In addition, the project also helps patients with non-genetic diseases that cannot be diagnosed with common tests due to the rarity of their conditions by conducting patient-specific tests to diagnose and suggest treatment and management.