Emily’s Entourage Awards $220,000 Research Grant to University of Lisboa Laboratory to Advance Research into Novel Approach to Potentially Treat Nonsense Mutations of Cystic Fibrosis

The research is focused on the identification and validation of new or improved therapeutic approaches for nonsense mutations of cystic fibrosis (CF)

Carlos M. Farinha, PhD, of the Biosystems and Integrative Sciences Institute at the Faculty of Sciences, University of Lisboa.

Lower Merion, PA – February 1, 2023 — 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 Carlos M. Farinha, PhD, of the Biosystems and Integrative Sciences Institute (BioISI) at the Faculty of Sciences, University of Lisboa to support research on restoring CFTR (cystic fibrosis transmembrane conductance regulator) protein function in nonsense mutations of CF through the discovery and validation of novel targets.

Dr. Farinha’s research focuses on the molecular mechanisms of CF, particularly in the identification of novel CFTR interactors regulating CFTR trafficking. These mechanisms may constitute novel therapeutic targets to treat CF and may also play an important role in characterizing the effect of rare mutations of CF.

While highly effective CFTR modulator therapies are now available to 90% of people with CF who have at least one copy of the most common genetic mutation, F508del, roughly 10% of the CF community with nonsense or other rare mutations of CF, do not benefit from these lifesaving therapies. Dr. Farinha’s work is focused on restoring CFTR protein for those in the final 10% of the CF community. His research aims to investigate altered genes and proteins and use them to find novel targets that can boost CFTR rescue in individuals with class I mutations.

The project, titled, “Sign2Sense – Disease Signatures in Nonsense Mutations: from mechanisms to improved therapies,” aims to explore recently identified expression signatures associated with G542X-CFTR as potential targets to promote the suppression of nonsense mutations. Nonsense mutations occur when a premature nonsense or stop codon is introduced in the DNA sequence. When the mutated sequence is translated into a protein, the resulting protein is incomplete, and the protein is not functional.

“Nonsense mutations in CF are recognized as notoriously challenging targets for drug discovery and development,” said Chandra Ghose, PhD, Chief Scientific Officer of Emily’s Entourage. “Dr. Farinha’s research represents an exciting opportunity to potentially reach individuals in the final 10% of the CF population through a new mechanism of action.”

As part of this grant, Dr. Farinha will conduct further research to validate and characterize novel targets for their ability to promote increased levels of CFTR mRNA and full-length protein. For people with nonsense mutations of CF, translation of the CFTR protein is stopped prematurely, and no functional CFTR protein is produced. With this in mind, a strategy to promote full-length CFTR protein could lead to synergistic strategies to be used in combination with other treatments.

“I am thrilled to receive this funding from Emily’s Entourage to continue my research into novel therapeutic targets to potentially treat CF, specifically nonsense mutations,” said Dr. Farinha. “The path to find effective strategies to treat all people with CF will likely be to combine approaches. Through our work, we propose to characterize and validate an additional approach to target nonsense mutations by elucidating the cellular mechanisms that are disrupted and using them to favor the production of full-length CFTR.”

The project will contribute to the identification and validation of new or improved therapeutic approaches for CF associated with nonsense mutations, and ultimately to the discovery and development of effective treatment options for all people with CF.

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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 do 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 now-aquired 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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