Genetic Susceptibility to Rare and Complex Diseases
Data update as of 31/12/2023
2023 DATA
Persons in charge
Research
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LocationSevero Ochoa Molecular Biology Center. Genome Dynamics and Function Programme Genome Decoding Unit c/ Nicolás Cabrera, 1. Campus de Cantoblanco. Universidad Autónoma de Madrid. 28049 Madrid.
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Gender perspective
Activity summary
T-cell acute lymphoblastic leukaemia (T-ALL) is an aggressive haematologic malignancy characterised by aberrant proliferation of immature thymocytes. During this period our group has developed personalised genomic and molecular reports of patients seen at HUFJD, and we have conducted a study on the relevance of circular RNA in the differentiation of immature T lymphocytes in the thymus. We have also initiated the study of long non-coding RNA as master regulators of gene expression, developing a novel experimental approach for their quantification.
Contributions to society
We have applied for a patent for an in vitro method of quantifying the cellular content of specific RNA.
Collaborations
The results obtained have benefited from our collaboration with the HUFJD Haematology group and Dr. Pablo Fernández Navarro (Department of Cancer Epidemiology, ISCIII).
PhD Theses
List of publications ordered by publication date
The JAK3Q988P mutation reveals oncogenic potential and resistance to ruxolitinib.
Lahera A, Vela-Martín L, Fernández-Navarro P, Llamas P, López-Lorenzo JL, Cornago J, Santos J, Fernández-Piqueras J, Villa-Morales M.
Mol Carcinog. 2023 Sep 15.
PMID: 37712558
FI: 4,6
Identification of NRF2 Activation as a Prognostic Biomarker in T-Cell Acute Lymphoblastic Leukaemia.
Villa-Morales M, Pérez-Gómez L, Pérez-Gómez E, López-Nieva P, Fernández-Navarro P, Santos J.
Int J Mol Sci. 2023 Jun 19.24(12).
PMID: 37373496
FI: 5,6
Comprehensive characterization of a novel, oncogenic and targetable SEPTIN6::ABL2 fusion in T-ALL.
Lahera A, Vela-Martín L, López-Nieva P, Salgado RN, Rodríguez-Perales S, Torres-Ruiz R, López-Lorenzo JL, Cornago J, Llamas P, Fernández-Navarro P, Sánchez-Domínguez R, Segovia JC, Sastre I, Cobos-Fernández MÁ, Menéndez P, Santos J, Fernández-Piqueras J, Villa-Morales M.
Br J Haematol. 2023 Jun 02.
PMID: 37264982
FI: 6,5
SOCS3 deregulation contributes to aberrant activation of the JAK/STAT pathway in precursor T-cell neoplasms.
Lahera A, López-Nieva P, Alarcón H, Marín-Rubio JL, Cobos-Fernández MÁ, Fernández-Navarro P, Fernández AF, Vela-Martín L, Sastre I, Ruiz-García S, Llamas P, López-Lorenzo JL, Cornago J, Santos J, Fernández-Piqueras J, Villa-Morales M.
Br J Haematol. 2023 May.201(4):718-724.
PMID: 36786170
FI: 6,5
List of publications ordered by publication date
PUBLIC
Sources of public funding for projects being developed at the IIS-FJD:
NA
PRIVATE
REFERENCE |
PROJECT TITLE |
PRINCIPAL RESEARCHER |
TYPE OF PROJECT |
CONV/UAM04 |
ANÁLISIS GENÓMICOS Y TRANSCRIPTOMICOS EN EL TRATAMIENTO PERSONALIZADO DE NEOPLASIAS LINFOBLÁSTICAS DE CELULAS T |
SANTOS HERNÁNDEZ FRANCISCO JAVIER |
PROYECTOS PRIVADOS NO COMPETITIVOS |
Clinical trials
NA