Team projects

National collaborative strategy to improve the identification and clinical management of Constitutional Mismatch Repair Deficiency (CMMRD) syndrome

DNA MisMatch Repair Lab

Validation of the clinical use of high-sensitivity microsatellite instability assessment in improving early diagnosis of endometrial cancer and establishing personalized gynecological follow-up strategies in Lynch syndrome

DNA MisMatch Repair Lab

Underpining the effects of defective miRNA biogenesis in the formation of thyroid tumors

Assessment of a novel pan-cancer biomarker to improve immunotherapy response prediction

DNA MisMatch Repair Lab

Characterizing early events driving carcinogenesis in Constitutional Mismatch Repair Deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention

DNA MisMatch Repair Lab

Modeling precancer in germline mismatch repair deficiency for a personalized immune-based surveillance (MIsMatch4PERSON)

DNA MisMatch Repair Lab

The mechanistic basis for constitutional MLH1 methylation

DNA MisMatch Repair Lab

Neutralizing autoantibodies against type I interferons continue to confer a higher risk of severe COVID-19 in fully vaccinated population

Genetic Susceptibility to Severe Covid-19 Team

Autoantibodies against type I interferons continue to confer a higher risk of severe COVID-19 in fully vaccinated population

Genetic Susceptibility to Severe Covid-19 Team

Role of immune system inborn errors as determinants of the COVID-19 severity in hospitalized patients

Genetic Susceptibility to Severe Covid-19 Team

Tackling current challenges in the genetic diagnosis of hereditary cancer through integrative analysis of molecular, clinical and population data

Improving Genetic Diagnostics Team

NF1 nonsense suppression by targeted pseudouridylation

Neurofibromatosis team

Testing the Malignant Peripheral Nerve Sheath Tumor vulnerability to precision therapies directed to recurrent genomic alterations

Neurofibromatosis team

Clarifying the phenotypic spectrum associated with RAD51 partners and the proteomic interplay of RAD51 paralogs.

Rare TumorS Lab

Building the Network of Rare Ovarian Tumors (NRTO), an intercontinental initiative

Rare TumorS Lab

Clinical and molecular characterization of novel subtypes of Sex Cord-Stromal Tumors of the ovary

Rare TumorS Lab

To uncover the genetic causes of Gorlin-like patients without an identified molecular cause.

Rare TumorS Lab

Elucidating the molecular mechanisms driven by FGFR1 mutants in Low Grade Gliomas

Rare TumorS Lab

Characterization of the novel DGCR8-microprocessor syndrome

Rare TumorS Lab

CRISPR/Cas9-edited organoids for the functional evaluation of gene variants in colorectal cancer

ProofREAD4MED: Polymerase proofreading-deficient tumors: genetics and immune biology insights for improved predictive medicine

Colorectal Cancer Predisposition

Non-conventional mechanisms of gene inactivation in hereditary colorectal cancer

Comprehensive research in colorectal cancer and polyposis predisposition: searching for genetic and epigenetic causes of the disease

MicroRNAs in sporadic and familial colorectal cancer

SOLVE-RD: Solving the unsolved rare diseases

Colorectal Cancer Predisposition Lab