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On the search for genetic modifiers of lysosomal biology in health and disease!

Anyelo Durán, a PhD student from UDD in Santiago, Chile, has joined the Platt Lab in Oxford. This comes shortly after Dr. David Priestman returned after 3 months working on a project also in Santiago, Chile.

Both of these projects were made possible by LysoMod, an international consortium of laboratories funded by the European Union’s Horizon 2020 research and innovation staff exchange program.  The project was a direct collaboration with long-term friend and renowned genetics expert Dr Andres Klein, Director of the Center for Genetics and Genomics at La Universidad del Desarrollo (UDD) in Santiago.

Together first in Santiago and now in Oxford,  they are working together to develop assays for a panel of different lysosomal enzymes to measure in liver samples from thirty different strains of mice.  The data generated is presently being computer-processed in genome wide association studies (GWAS) to identify candidate genetic modifier genes which affect lysosomal biology.  Once identified, these genes will become new targets for the development of new treatments for lysosomal storage disorders.

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