Laboratory of Medical Genetics

it is engaged in the study of the genetic causes and mechanisms of pathogenesis in the two main areas of human pathology

  • The lab has two directions of research:

    • The identification of imbalances, and genomic changes in human DNA sequences in the neuro-development, with a focus on autistic spectrum disorders, brain malformations, epilepsy and disability, an intellectual of the unexplained. The clinical data and the genetic detailed, obtained by a study of the microarray at the level of the genome, sequencing of the classic and the next generation to contribute to the definition of the entities, the clinical potential of new and delineation in the still of the existing ones.
    • The discovery and characterization of molecular abnormalities, genetic disorders, haematological malignancies. By using the technologies of genomics, the laboratory has focused on the identification of alternatives to eliminate the clinical relevance and of the patterns of co-occurrence in acute myeloid leukemia. The identification of the lesions, the molecular to the recurrent and allows a much better understanding of the pathogenesis of the disease, and improved tools for the detection / prediction.

    Our lab seeks to define the genetic defects underlying these samples are unique to the patients and to correlate them with the clinical data, working in close collaboration with the departments of clinical trials, aiming at a better understanding of the mechanisms of the disease in these patients.

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