PI: Associate Professor Gisela Barbany
The focus of our team is translational research in malignant hematology, in particular genetic characterization of pediatric acute lymphoblastic leukemia (ALL). The overall goal of the group is to improve the tools used in the stratification of ALL patients. For that purpose, we are working with four different subprojects:
- Implement next-generation sequencing techniques in the diagnostic setting of ALL and validate whole-genome sequencing (WGS) as a routine diagnostic procedure for acute leukemia. We also develop quantitative methods using the unique sequences generated by structural events in the leukemic blasts to monitor therapy response.
- We investigate particular genetic subgroups of ALL to understand the impact on blast biology and behavior of the driving genetic event.
- We study ALL patients lacking stratifying genetic markers and try to identify and validate novel potential genetic markers.
- We investigate the pathogenic mechanisms underlying the genetic events that recurrently affect particular regions of the genome in acute leukemia.
Significance: Through the combination of different high-throughput methodologies, our studies will contribute to understand the consequences of genetic aberrations on leukemia biology and behavior as well as the mechanisms that make these chromosome regions prone to recurrently engage in complex rearrangements. We expect that our studies combined will improve the diagnostic procedures that underlie risk stratification of ALL patients and thus contribute to decrease over- and undertreatment of children with ALL.