HERO

From genomic innovation to the clinic: integrating long-read sequencing and patient engagement for hereditary cancer prevention

This project aims to help close the diagnostic gap in hereditary cancer syndromes and turn advances in genomics into real clinical benefits by: 

• Raising awareness and supporting individuals at risk through digital outreach
• Introducing long-read sequencing approaches and evaluating their added value
• Identifying and prioritizing new variants
• Functionally characterizing variants whose clinical significance is still unclear

This project brings together expertise across disciplines – from clinical genetics and oncology to genomics, bioinformatics, molecular and cell biology, and digital health. By integrating these fields, it aims to improve risk detection and strengthen prevention strategies for hereditary cancer syndromes. 

Co-PI:  Ana Berta Sousa MD PhD (ULS Santa Maria)
Co-PI: Maria Carmo-Fonseca MD PhD (GIMM, FMUL)