C3 supports generation of new LGMD2A disease model for research

C3 is excited to announce that we are funding a research project with Dr. Cathleen Lutz, Director of the Rare and Orphan Disease Center at The Jackson Laboratory in Bar Harbor, Maine. Dr. Lutz works with researchers and disease foundations in the development, characterization and validation of mouse models. These models can then be distributed to the research community to study disease pathogenesis and test potential therapies.

Dr. Lutz’s current project, ‘Using CRISPR/Cas9 to create and characterize knock out and null alleles on multiple genetic backgrounds,’ will use innovative gene editing technology to develop new mouse models that are lacking the gene for Calpain 3. Dr. Lutz will use this approach on 4 different genetic backgrounds. The resulting models will be comprehensively characterized to determine if they display the typical features of LGMD2A seen in human patients, including muscle weakness and histological features consistent with muscular dystrophy.

The most relevant lines will be made available via The Jackson Laboratory’s Mouse Repository, which will facilitate efficient distribution of specific-pathogen-free live mice to the scientific community where they can be used for drug discovery and therapeutic development.

Lutz comments,  “We are very excited to be working with the C3 foundation.  JAX recognizes the importance of making mouse models available to the scientific community, and hope these models will have a positive impact in helping find a treatment for patients.”

Dr. Jennifer Levy, Scientific Director at C3, says, “Animal models that recapitulate disease are critical to many stages of therapeutic development, including basic and translational research and the preclinical testing of pharmaceutical compounds. Dr. Lutz’s project will develop well-characterized mouse models that can be easily distributed to researchers around the world and will speed the progress of research and drug development.”

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