Rare diseases (RDs) affect millions globally, with over 50% of cases remaining undiagnosed due to limitations in current diagnostic tools. The xPAND project seeks to address these challenges by developing innovative multi-omics approaches that integrate long-read whole-genome sequencing (LR-WGS),...

STAMP-IT develops a novel precision oncology approach that transforms circulating immune cells into living biomarkers to predict patient responses to immune checkpoint inhibitor (ICI) therapies. Current biomarkers, such as tumor mutational burden and PD-L1 expression, have limited predictive...

Breast cancer is the most frequently diagnosed cancer in women, with European countries having some of the highest age-standardized incident rates of early-onset (< age 50) breast cancer in the world. Yet, our understanding of the genetic and environmental factors triggering the pathophysiology...

The objective of IMPaCT-Genómica 2 is to improve equitable access to faster and more reliable diagnoses for rare diseases (RDs) and low-frequency genetic tumors within the National Health System (SNS), facilitating their prevention, therapy research, and impact assessment. Previous results from...

Chemotherapy (CT) remains the cornerstone of colorectal cancer (CRC) treatment worldwide; however, many patients experience disease progression despite therapy. Although conventional markers aim to account for CRC heterogeneity to guide treatment decisions, they often yield inconsistent results,...

The IMPaCT Cohort aims to advance research in precision preventive medicine through the recruitment of 200,000 participants. For each of them, epidemiological information, a comprehensive physical examination, and environmental exposure measurements will be collected, all of which must be...