Carlos Farinha, PI of the Cystic Fibrosis Research Group – included in the Functional Genomics and Proteostasis Group, at Ciências ULisboa – has been awarded 220 thousand USD by Emily’s Entourage to support research on restoring CFTR (cystic fibrosis transmembrane conductance regulator) protein function in people with Cystic Fibrosis bearing nonsense mutations. 

Disease Signatures in Nonsense Mutations: from mechanisms to improved therapies is the name of the research project and this is the main motivation for its funding: “While highly effective CFTR modulator therapies are now available to over 80% of people with Cystic Fibrosis (CF), roughly 10% of the CF community with nonsense or other rare mutations of CF, do not benefit from these lifesaving therapies”, says Carlos Farinha.

Non-sense mutations are characterized by an incomplete translation of the CFTR protein due to a premature nonsense or stop codon, which results in the production of a non-functional protein. Having that in mind, Carlos Farinha explains his scientific strategy: “(…) 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”.  This strategy is very welcome by the Emily’s Entourage. In Chandra Ghose’s, Chief Scientific Officer of Emily’s Entourage, own words:  “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.”

Although, patients will ultimately be the greatest beneficiaries of this project, it will also be a very advantageous experience for Carlos Farinha and his lab as he himself points out: “It is particularly rewarding to get funding from a prestigious initiative such as Emily’s Entourage – an innovative foundation that accelerates research for new treatments and a cure for the final 10% of people with cystic fibrosis”.

Furthermore, the project will allow  Carlos Farinha’s team to explore a novel approach, opening new “doors” within the scientific field: “The proposed approach brings our expertise – and previous results – using Systems Biology approaches to the specific field of rescuing nonsense mutations. This is novel by itself and will hopefully help to identify and validate new/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”, concludes the principal investigator.

Learn more about this issue on Emily’s Entourage press release.

Find out more about Carlos Farinha’s research here.

Discover the work develop by Emily’s Entourage on its website.