Genetic Susceptibility to Rare and Complex Diseases

6.5.2-SUSCEPTIBILIDAD GEN-FOTO
2025 DATA

Summary of activities

T-cell acute lymphoblastic leukaemia (T-ALL) is an aggressive haematological malignancy characterised by the abnormal proliferation of immature thymocytes. During the reporting period, our group provided personalised genomic and molecular profiling for patients treated at HUFJD and investigated the role of circular RNAs in the differentiation of immature T lymphocytes within the thymus. We also initiated the study of long non-coding RNAs (lncRNAs) as master regulators of gene expression and established a new experimental approach for their quantification. Over the course of the year, we identified several lncRNAs, including MALAT1 and TCLlnc1, that are dysregulated in T-cell lymphoblastic neoplasms and in angioimmunoblastic T-cell lymphomas (AITLs). These findings contribute to a better understanding of the molecular mechanisms underlying these malignancies and may lead to the identification of newbiomarkers and therapeutic targets for patients with T-cell neoplasms.

Contributions to society

We have filed a patent application for a novel in vitro method to quantify specific cellular RNA molecules.

Collaborations

The results obtained have benefited from our collaboration with the HUFJD Haematology group, led by Dr Pilar Llamas, in the study of T-cell lymphoblastic neoplasms, and with Dr Rodríguez-Pinilla's Group from the HUFJD Department of Pathology, working with samples from patients with angioimmunoblastic T-cell lymphoma (AITL).

PhD Theses

Susceptibilidad y genética-02

List of publications

Lahera A, Vela-Martín L, Fernández-Navarro P, López-Lorenzo JL, Cornago J, Llamas P, Fresno M, Santos J, Villa-Morales M.

Br J Haematol. 2025 Nov.207(5):2147-2152.

PMID: 40859815

FI: 3,9

http://dx.doi.org/10.1111/bjh.70118

Projects, Contracts and Observational Studies