“Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay” – Dr. Martina Crispo Benedetto

Août 31, 2024 | Recherche en 2024

“Our goal is to generate an AVATAR mouse model to reproduce the heterozygous compound alteration of a Uruguayan-child, in South America. Using the CRISPR/Cas technology we will generate a frameshift SACS variant mouse line, reproducing the father’s modification and other mouse line with a missense PRO2369LEU VARIANT for the mother. Obtaining this grant allows us to validate the animal model and initiate pre-clinical studies of this disease in our country in a near future.”

New this year - Seed Grant Project !

 Subvention : $25 000

Durée : un an

Contact :

From left to right: Geraldine Schlapp, Martina Crispo, María Noel Meikle, Jorge Luis Pórfido

Dr. Martina Crispo Benedetto

Mataojo 2020
Institut Pasteur of Montevideo 
Montevideo, Uruguay
crispo@pasteur.edu.uy