Emily's Entourage atribui $220 000 ao Laboratório da Universidade de Iowa para fazer avançar a investigação sobre a correção da função da mutação Nonsense CFTR

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.”

Saiba mais sobre as subvenções que a Emily's Entourage financiou em www.emilysentourage.org/awarded-grants. 

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Sobre a comitiva de Emily

A Emily's Entourage é uma organização inovadora 501(c)3 que acelera a investigação de novos tratamentos e de uma cura para os indivíduos no último 10% da população com fibrose quística (FC) que não beneficia das terapias direcionadas para as mutações atualmente disponíveis, incluindo os que têm mutações nonsense da FC. Desde 2011, a Emily's Entourage concedeu milhões de dólares em bolsas de investigação, lançou uma empresa de terapia genética para a FC, desenvolveu um registo de doentes e um programa de combinação de ensaios clínicos para acelerar o recrutamento para ensaios clínicos e liderou esforços a nível mundial para impulsionar a investigação de alto impacto e o desenvolvimento de medicamentos. A organização tem sido referida nos meios de comunicação social nacionais, incluindo o New York Times, STAT, CNN, People, entre outros. Saiba mais em emilysentourage.org. 

Contacto para a imprensa
Ashling Knight
Diretor de Marketing e Comunicação
Entourage de Emily
ashling@emilysentourage.org