Background
The fruit fly Drosophila melanogaster is a powerful model system for the study of complex genetic questions. For the last 50 years scientists have used this organism to identify the genes controlling critical events during development and neural differentiation and physiology. As a graduate student I trained as a geneticist and developmental biologist. I have identified novel genes mediating the specification of wings and legs, morphologically distinct insect appendages that develop under the control of different genes.
More recently, the power of Drosophila as a model system has also been applied to understand the genetic and molecular basis of memory, behavior and neurodegeneration, extremely challenging biological problems with implications in human health care and quality of life. During my postdoctoral training I generated Drosophila models of human neurodegenerative disorders with the aim of uncovering the molecular cascade that leads to neuronal loss in patients. Spinocerebellar Ataxia Type 1 (SCA1) is a dominant neurological disorder that affects primarily the cerebellum and causes progressive paralysis and death of the patients. SCA1 is caused by a DNA expansion that makes the ataxin-1 protein to aggregate and disrupt cellular function. We have identified a number of novel genes involved in ataxin-1 pathogenesis in flies. We also discovered that the modification (phosphorylation) of ataxin-1 is necessary for its binding to another protein, and the formation of this complex is critical for pathogenesis. In our studies we proposed that pharmacological inhibition of ataxin-1 phosphorylation should revert or slow SCA1 progression. I have also identified novel molecular mechanisms mediating Huntington’s disease and Alzheimer’s disease using Drosophila. These discoveries will lead to innovative pharmacological intervention to treat these devastating disorders.

Research Interest
My lab focuses in uncovering the genetic and molecular basis of human neurodegenerative disorders, including Alzheimer’s disease, Huntington’s disease and Friedreich ataxia. Given the complex nature of these syndromes we are using the fruit fly Drosophila melanogaster as a model system suitable to genetic and pharmacological manipulation. We have successfully used flies to uncover a novel mechanism mediating SCA1 (a disorder similar to Huntington’s disease), which led us to propose potential therapeutic strategies to treat the disease. We are generating fly models of Alzheimer’s disease, Huntington’s disease and Friedreich ataxia with the aim of identifying the genes and cellular events mediating their pathogenic mechanisms. This will allow us to design pharmacological strategies to cure these diseases.