Director of the center and Associate Professor
In In 2003 she obtained a Dipl. Biol./M.Sc. in Molecular Biology and in 2007 a Dr. rer. nat./Ph.D. both from the University of Heidelberg, Germany. During her master's and doctorate, she studied the macromolecular structure and immunogenicity of the surface proteins of the malaria parasite Plasmodium falciparum with the aim of contributing to the development of the malaria vaccine. Between 2007 and 2010, she was a postdoc in the Center for Biological Complexity at Virginia Commonwealth University, USA, studying the vaccine potential of proteins from the intestinal parasite Cryptosporidium sp. identified by a reverse vaccinology approach using genome sequencing and bioinformatics. Between 2010-2013 she completed a second Postdoc in at the University of Chile, Chile, in Neuroscience, studying the role of mutations in protein disulfide isomerases identified in patients with amyotrophic lateral sclerosis (ALS). In November 2013, she established her laboratory at the Universidad Mayor characterizing new proteins in the disease. Currently her team is focusing on studying new proteins involved in ALS identified by a web-based bioinformatics approach. It uses a wide spectrum of techniques, such as bioinformatics, molecular biology, biochemistry, cell biology, as well as in vivo model systems to understand the role of in most cases uncharacterized or understudied proteins in disease.
PUBLICATIONS
2015-pres
RESEARCH LINES
Jointly with the lab of Dr. Patricio Manque, our lab combines systems biology with molecular biology, biochemistry, cellular and animal studies to understand mechanisms of human disease. We apply network-based approaches to build disease-specific networks allowing us to identify new genes, pathways, subnetworks responsible for the molecular pathology of a disease. To achieve this, we collect large data sets (RNAseq, CNV, HUGE, Proteomics) and combine them with a diverse set of bioinformatic tools, e.g. convergent analysis. This approach permits us, (i) to identify topological changes in the overall structure of the network, (ii) to unravel new genes or new interactions associated with a disease, and (iii) to detect potential master regulators in the disease specific networks. Once we bioinformatically identified a candidate gene we investigate its role during disease with a broad set of experimental tools. Currently we are focusing on the characterization of novel genes inserted in the diseasosome of the neurodegenerative disease amyotrophic lateral sclerosis (ALS).
A bioinformatic network-based approach suggested the previously uncharacterized protein Pacer to have a role in ALS pathology through its function in autophagy. Using cellular and mouse models of ALS we are now investigating the role of Pacer during disease and whether or not its loss or gain of function has any effect on molecular mechanisms of neurodegeneration.
Mesenchymal stem cells offer an important and widely used cellular therapy approach for different diseases, e.g. inflammatory bowel syndrome, Crohn’s disease, as well as nervous system diseases, such as ALS. Autophagy has been suggested to be involved in the immune modulatory potential of Mesenchymal stem cells (MSCs), which are now widely used as a cellular therapy approach. Hence, together with the lab of Dr. Manque we investigated if the novel autophagy protein Pacer performs a regulatory function towards this property of MSCs.
PROJECTS
Active
2024-2028 FONDECYT Regular 1240176 (Investigador Principal)
Completed
2020-2024 FONDECYT Regular 1200459 (Investigador Principal)
2019-2020 FONDO Puente PEP I-2019054 (Investigador Principal)
2015-2019 FONDECYT Regular 1150743 (Investigador Principal)
2010-2013 Fondecyt Postdoc 3110067 (Investigador Principal)
TEAM
Ernesto Muñoz Postdoc, Doctor en Ciencias, mención en Biología Molecular, Celular y Neurociencias, Universidad de Chile.
Giselle Espinosa Estudiante de Doctorado en Genomica Integrativa, Universidad Mayor.
Carla Alarcon Estudiante de Doctorado en Neurobiologia, Universidad Mayor.
Leonardo Rodriguez Estudiante de Doctorado en Genomica Integrativa, Universidad Mayor.
Barbara Saavedra Estudiante de Doctorado en Neurobiologia, Universidad Mayor (co-Tutor).
Miguel Rubilar Estudiante de Doctorado en Genomica Integrativa, Universidad Mayor (co-Tutor).
Former Lab Members
Sebastian Beltran PhD student of Integrative Genomics, Universidad Mayor and Postdoc, now Director of the Medical Technology School, Universidad Mayor, Chile
Luis Labrador PhD student of Integrative Genomics, now Postdoc in Cincinnati Children's Hospital, USA
Emiliano Vicencio PhD student of Integrative Genomics, now Postdoc at University of Chile, Chile
NETWORK
National
Mauricio Hernandez, Melisa Institute, Concepcion, Chile
Estefania Nova-Lamberti, Universidad de Concepcion, Chile
Diego Rojas-Rivera, Center for Biomedicine, Universidad Mayor, Chile
Melissa Nassif, Center for Biomedicine, Universidad Mayor, Chile
Rene Vidal, Center for Integrative Biology, Universidad Mayor, Chile
Francisca Cornejo, Center for Integrative Biology, Universidad Mayor, Chile
Felipe Court, Center for Integrative Biology, Universidad Mayor, Chile
Cesar Cardenas, Center for Integrative Biology, Universidad Mayor, Chile
International
Danilo Medinas, University of Sao Paolo, Brasil
Mathieu Bertrand, Inflammation Research Center, Ghent University, Belgium