TS-000382 — Experts at Nationwide Children's Hospital have developed a novel Titin-deficient mouse, TTN 219, in order to study limb girdle muscular dystrophy type 2J (LGMD2J) based on a documented patient mutation. The TTN219 mouse model was developed using CRISPR/Cas9 technology therefore the time required to modify the Titin gene is reduced as well as off-target insertions into the mouse genome. Our experts have demonstrated functional deficits in skeletal muscles of the TTN219 mouse model and plan to use this model to test therapeutic strategies intramuscularly and systemically to restore Titin protein function.

TS-000381 — Titin (TTN) plays essential roles in both skeletal and cardiac muscle and when functioning improperly has devastating effects on muscle like dilated cardiomyopathy. Gene therapy experts at Nationwide Children’s Hospital have utilized CRISPR/Cas9 technology to develop a new mouse model of dilated cardiomyopathy referred to as TTN326. Utilizing the CRISPR/Cas9 technology to produce a mouse model instead of traditional methods has reduced the time required to modify the Titin gene as well as off-target insertions into the mouse genome. Our experts have demonstrated functional deficits in skeletal muscles of the TTN-326 mouse model and plan to test therapeutic strategies intramuscularly and systemically in this model to restore Titin protein function.