Haematological Diagnosis

The group focuses its activity on improving the diagnosis and monitoring of hematological neoplasms through the application of advanced immunophenotyping and molecular biology techniques. Its research is oriented toward identifying genetic and molecular alterations relevant to the pathogenesis of these diseases, as well as integrating these findings into clinical practice to optimize prognostic stratification and therapeutic decision-making. In addition, the group develops and applies new diagnostic platforms in areas such as flow cytometry, genomics, and molecular biology, establishing itself as a reference laboratory in national and international cooperative studies. Its activity includes the study of minimal residual disease and the development of tools for rapid molecular diagnosis, particularly in acute myeloid leukemia, incorporating emerging biomarkers and novel technological approaches.

Main Lines of Research

• Germ cell neoplasms. (Pratcorona Canela, Marta).
• Erythropathology. (Gonzalez Alvarez, Nuria).
• Flow cytometry. (Leoz, Pilar).

Scientific Challenges

• Long-read sequencing and optical genome mapping applied to complex molecular abnormalities.
• Clonal evolution assessed by ddPCR and NGS.
• Metabolism parameters incorporation to hematologic neoplasms diagnostics and therapeutics.
• Structural studies to assess the pathogenic potential of mutants.
• Rare red cell disorders diagnosis.

Contact

Josep Nomdedéu 
jnomdedeu@santpau.cat