Project description:This study aimed to validate the use of DNA methylation profiling in the classification of pediatric central nervous system (CNS) tumors within the Brazilian public healthcare system. A total of 16 tumor samples from pediatric patients previously diagnosed with medulloblastoma or ependymoma—the two most common CNS tumors in children—were analyzed. DNA was extracted from formalin-fixed paraffin-embedded (FFPE) tissue and processed using the Infinium MethylationEPIC BeadChip array (Illumina). Methylation data were interpreted using two versions of the DKFZ brain tumor classifier (v11b4 and v12.5) and compared to reference diagnoses established through routine histopathological and molecular analyses. The study was conducted at the largest public hospital complex in Latin America and reflects practical challenges and opportunities for implementing precision diagnostics in real-world, resource-limited healthcare settings.
Project description:In this study, we conducted a histopathological-based analysis of 10x Genomics Visium spatial transcriptomics data on a human kidney sample corresponding as closely as possible to the reality of the interpretation of a kidney biopsy in a healthcare or research context.
Project description:This clinical trial studies the effectiveness of a web-based cancer education tool called Helping Oncology Patients Explore Genomics (HOPE-Genomics) in improving patient knowledge of personal genomic testing results and cancer and genomics in general. HOPE-Genomics is a web-based education tool that teaches cancer/leukemia patients, and patients who may be at high-risk for developing cancer, about genomic testing and provide patients with information about their own genomic test results. The HOPE-Genomics tool may improve patient’s genomic knowledge and quality of patient-centered care. In addition, it may also improve education and care quality for future patients.
