The Jackson Laboratory

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Maximiliano Presa, Ph.D.

Senior Study Director

Directs rare disease translational programs in Charcot-Marie-Tooth disease and multiple sulfatase deficiency.

Maximiliano specializes in genome editing, transgenic model generation, and preclinical evaluation of therapies. With nearly 15 years of experience in CRISPR/Cas9 engineering, disease model development and characterization, and IND-enabling studies, his work has contributed to gene therapy advancements for disorders such as Charcot-Marie-Tooth disease and multiple sulfatase deficiency. Maximiliano is passionate about building tools and platforms that accelerate therapeutic progress for rare disease communities.

Maximiliano earned his licentiate degree in biotechnology from the Universidad Nacional del Litoral in Argentina. He then earned his Ph.D. at the Universitat de Barcelona with a focus in immunology. Joining JAX in 2012, Maximiliano advanced from Technology and Resource Development Scientist to Study Director, and is now a Senior Study Director at the Rare Disease Translational Center.

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