Susana De la Luna Gargantilla

Research and Interests

De la Luna’s group interests are mainly directed to defining how gene dosage imbalance caused by alterations of human chromosome 21 (HSA21) can contribute to specific pathological conditions ranging from Down syndrome (caused mostly by the trisomy of HSA21) to cancer (that sometimes involves translocations of HSA21). Her research focuses in particular on the characterization of novel HSA21 genes and their expression profiles, as well as on the identification of signal transduction pathways affected by over-expression of the protein kinase DYRK1A, which maps in the chromosomal region known as DSCR (Down syndrome critical region).

Expertise and Capabilities

De la Luna’s lab uses the latest experimental and computational techniques and resources, combined with the use of cells, in vivo (mouse) models and human tissues to study the effects of the alterations of chromosome 21 or DYRK1A, as well as to identify and confirm interacting proteins and signaling networks. These include the use of standard biochemical and molecular biology techniques, as well as more specialized ones like yeast-two hybrid screenings, Chip-Seq and several “omics” approaches (including phosphoproteomics).

Additional Information

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