Pathogenic Variant M3 (Model, Mechanism, Modulate)

Develop In Vivo or In Vitro  Models of Rare Pathogenic Variants

Generate genetically modified models using targeted technologies.

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Current Models:

Tuberous Sclerosis Complex Tuber

Tuberous Sclerosis Complex 

Focal Cortical Dysplasia

Tuberous Sclerosis Complex Tuber

Slc7a5 Autism

Slc35a2 Autism

Slc1a5

Imaging

Next generation or classical imaging solutions of tissues or cells. 

Discover Mechanistic Insight into how Mutations Alter Cells

Examine cellular, biochemical, or molecular pathways altered.

Genomic, Transcritpomics, and Translatomics

Unbiased approaches to identify altered pathways in disease.

Develop Novel Therapeutic Modalities to Treat and Modify Disease Causing Mutations

Modify and Modulate molecular pathways to test and develop novel therapeutic targets.

Single Cell Technologies

Technologies aimed at targeted studies to determine changes in cellular composition and alterations in individual cell types.