Emily’s Entourage Awards $220,000 to University of Iowa Laboratory to Advance Research Into Correcting Nonsense Mutation CFTR Function

The project introduces novel systems for correcting the cystic fibrosis transmembrane conductance regulator (CFTR) protein in the airways of people with nonsense mutations of CF

Nov. 2, 2022 — Emily’s Entourage (EE), an innovative 501(c)3 foundation that accelerates research for new treatments and a cure for the final 10% of people with cystic fibrosis (CF), including those with nonsense mutations, today announced it has awarded $220,000 in funding to Patrick L. Sinn, PhD, of The University of Iowa to support his research on correcting the CFTR protein in people with at least one nonsense mutation of CF.

Patrick L. Sinn, PhD, of The University of Iowa, is driving research that aims to achieve site-specific repair of CFTR mutations using an engineered enzyme, called an Adenine Base Editor (ABE).

Knowledge of CFTR function and cell type expression has advanced greatly since its discovery in 1989. Currently, 90% of people with CF benefit from mutation-targeted therapies that restore the function of their CFTR mutations. However, the remaining 10% of people with CF cannot benefit from these drugs because they produce too little or no functional protein.

The project, titled, “Correction of nonsense CFTR mutations using extracellular vesicle-delivered base editors,” aims to achieve site-specific repair of CFTR mutations using an engineered enzyme, called an Adenine Base Editor (ABE). Dr. Sinn’s team will focus on delivering the ABE to enough of the appropriate airway cells to be therapeutic.

“Dr. Sinn’s laboratory has a demonstrated track record of using cutting-edge gene editing technologies,” said Chandra Ghose, PhD, Chief Scientific Officer of Emily’s Entourage. “We anticipate tremendous progress will be made in the field of CF and will further inform the development of new therapies, with  particular attention to the final 10% of people with CF who have rare and nonsense mutations.”

The project will use naturally occurring particles, called extracellular vesicles (EVs), that most cells in the body produce. These particles are very small and have evolved to be cellular messengers that can deliver small molecules and proteins between cells. Dr. Sinn’s laboratory has previously demonstrated that EVs can deliver small RNAs and proteins to airway cells. As part of this grant, they will test if they can package and deliver ABEs to correct many of the rare, nonsense CFTR mutations.

“I’m very enthusiastic about the potential of this approach,” said Dr. Sinn, professor in the Department of Pediatrics, Division of Pulmonary Medicine at The University of Iowa. “If our experiments are successful, we will have a fast and inexpensive technique for performing gene editing experiments in a powerful model system and a potential treatment for genetic diseases like cystic fibrosis. Our ultimate goal is to achieve lifelong CFTR gene correction from a single dose of this aerosolized treatment.”

Learn more about the grants Emily’s Entourage has funded at www.emilysentourage.org/awarded-grants. 

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About Emily’s Entourage

Emily’s Entourage is an innovative 501(c)3 that accelerates research for new treatments and a cure for individuals in the final 10% of the cystic fibrosis (CF) population that does not benefit from currently available mutation-targeted therapies, including those with nonsense mutations of CF. Since 2011, Emily’s Entourage has awarded millions of dollars in research grants, launched a CF gene therapy company, developed a patient registry and clinical trial matchmaking program to accelerate clinical trial recruitment, and led worldwide efforts to drive high-impact research and drug development.  The organization has been featured in national media, including the New York Times, STAT, CNN, People, and more. Learn more at emilysentourage.org. 

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