Maximiliano Presa, Ph.D.

Technology and Resource Development Scientist

Development and molecular characterization of new mice models for human diseases. Utilizing mice models as a platform for pre-clinical evaluation of new therapies.

My research is focused in the development and characterization of new mice models for human diseases. We are applying cutting-edge CRISPR/Cas9-based genome editing technology for a precise engineering of the mouse genome with the goal of reproduce human clinical alleles (knock in and knock out models).  Together with the generation of transgenic mouse models expressing human gene variants, we are expanding the genetic tools available for the scientific community in areas like ALS, Charcot-Marie-Tooth, lysosomal storage diseases and several others rare disorders. Our validation process starts with a general molecular analysis based on gene expression and protein analysis as well as molecular markers relevant to the disease. The process is followed for a rigorous biometric analysis where we look for survival, growth and behavioral phenotypes. We also complement our analysis with electrophysiology, in vivo imaging and histopathology assessments. Our team is highly specialized in downstream in vivo applications for pre-clinical testing of new compounds and treatments. We have succeed in pre-clinical gene therapy studies for Charcot-Marie-Tooth-type-4J and currently ongoing gene therapy for multiple sulfatase deficiency (MSD). Thus, we are contributing to the research community with better mice models and setting new platforms for future development of more precise therapeutic strategies.

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Education and experience

Education:

The Jackson Laboratory
Postdoctoral associate
Adv: Dr. David Serreze
2012-2017

University of Barcelona
Ph.D. Immunology
Adv: Dr. Thomas Stratmann
2008-2012

University of Barcelona
Ms. Immunology
Adv: Dr. Thomas Stratmann
2006-2008

National University of the Littoral
B.Sc. Biotechnology.
1997-2005

Experience

Genetic Resource Science. The Jackson Laboratory
Technology and Resource development scientist.
2017-present

University of Barcelona. Department of Physiology and Immunology
Research assistant
2006-2012

National University of the Littoral
Laboratory technician
2002-2005.