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Dr. Stephanie Hagstrom Receives $2 Million to Study Tubby-Like Proteins (TULPs)

Researcher aims to discover the function TULP1 gene plays in the blinding disease, retinitis pigmentosa.

09/02/2022




Cleveland Clinic’s Cole Eye Institute has been awarded a five-year, $2 million grant from the National Eye Institute at the National Institutes of Health to research of the function of tubby-like proteins (TULPs) and the mechanism of photoreceptor degeneration.  

Led by Stephanie Hagstrom, PhD, Department of Ophthalmic Research in the Lerner Research Institute and staff member in the Cole Eye Institute, who originally discovered the TULP1 gene, which is one specific protein involved in protein transport throughout the photoreceptor cells of the retina, this study will further examine the role TULP1 specifically plays in causing retinitis pigmentosa.

Retinitis pigmentosa is a group of rare eye diseases that affect the retina and can change how the retina responds to light, ultimately leading to blurry vision or vision loss. Dr. Hagstrom has dedicated her research to focusing on the TULP1 gene and the devastating impacts it has on the eye when it undergoes genetic mutations.  

“This grant allows us to use the most cutting-edge technologies, such as CRISPR-Cas gene editing, to study the exact mutations that we’re seeing in patients today,” says Dr. Hagstrom. “This is the most detailed research of its kind with regard to this particular family of proteins.”

 

 



TULPs are found in a very specialized region of the photoreceptor cell, the connecting cilium. Within this region, researchers plan to investigate mechanisms of photoreceptor degeneration, which is the loss of rods and cones in the retina. Dr. Hagstrom hopes that discoveries made can be studied in other genes located in the same region of the eye. Additionally, her team aims to discover more gene-independent therapeutic approaches to prolong cell survival after a mutation emerges, which may ultimately lead to vision preservation.

“Simply put, we need to know why the cells are dying,” says Dr. Hagstrom. “Gene therapy is difficult with these type of disorders due to the amount of mutated genes and the types of mutations that can occur. But still, the possibilities of discovery are exciting.”



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