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Unveiling the pivotal disease-associated mechanisms in TPM3-related myopathy

TPM3-related myopathy is a muscular disorder caused by genetic defect in the tropomyosin-3 (TPM3) gene. Patients typically experience lifelong muscle weakness, eventually requiring the use of a wheelchair and nocturnal non-invasive ventilatory (NIV) support. So far, there is no treatment or cure for TPM3-related myopathy. Using the CRISPR-Cas9 genetic scissors, our lab developed mouse and zebrafish models of the disease that mirror the pathology seen in patients. In mouse, we aim to study the molecular events in muscle that contribute to the disease and to better drive the development of therapeutic strategies. Zebrafish also offers many advantages (small size, large number, rapid development ex utero, ability to absorb drugs) to complement studies in mouse. We aim to use the zebrafish as a straightforward and cost-effective platform to design targeted therapeutics using small compounds or mRNA strategies that reverse the pathology. Our long-term goal is to better understand the disease and provide efficient therapies for patients.
https://doi.org/10.55762/pc.gr.157029
Grantee: Matthias Lambert
Grant type: Development Grant
Award total: $210,000
Institution: Boston Children's Hospital
Country: Massachusetts, United States