Emily’s Entourage Grant Targets Nonsense Mutations

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

Share this article:

Share article via email
lung transplant | Cystic Fibrosis News Today | nonsense mutations | illustration of piggy bank

The nonprofit Emily’s Entourage has awarded $440,000 in funding to support two projects aimed at advancing cystic fibrosis (CF) research.

“These grants reflect Emily’s Entourage’s unwavering commitment to advance lifesaving research to fill critical unmet needs and expeditiously pursue promising therapeutic opportunities for the CF community, especially those that do not benefit from existing mutation-targeted therapies,” Chandra Ghose, PhD, chief scientific officer of Emily’s Entourage, said in a press release.

CF is caused by mutations in the CFTR gene, leading to a faulty protein of the same name. One such type, called nonsense mutations, leads to the production of a short, nonfunctional CFTR protein that degrades quickly.

Recommended Reading
US survey | Cystic Fibrosis News Today | survey illustration

CF Patients Satisfied With Care, but Not Life Quality, US Survey Finds

Recent therapeutic advances, including CFTR modulators, are not effective for the nearly 10% of CF patients who have nonsense mutations, causing concern among these patients.

Emily’s Entourage seeks to accelerate research breakthroughs for these patients through their grants program, with a particular focus on the W1282X mutation. The nonprofilt was named after Emily Kramer-Golinkoff, a CF patient who has been a patient advocate while mananging her own heatlh.

The first grant was awarded to Xingshen Sun, PhD, and his research team at the University of Iowa. The team will work toward developing a new animal model of CF.

In Sun’s model, ferrets will be genetically modified to have the W1282X mutation in their CFTR gene. Previous research showed the ferret is an appropriate species for the model because they develop lung disease leading to respiratory failure, pancreatic complications, and CF-related diabetes, similarly to the human disease.

Once developed, the model can be used to test potential new treatments before moving to clinical trials.

The model “provides a new opportunity to accelerate the identification of effective and safe therapeutic approaches, significantly shortening the course of identifying new drugs or new therapeutic strategies,” Emily’s Entourage stated in the press release.

The second project, led by Debadyuti (Rana) Ghosh, PhD and Hugh Smyth, PhD at the University of Texas at Austin, will aim to develop a new delivery method for a gene-editing therapy to restore CFTR and potentially cure the disease.

There is currently a technology that can target W1282X, according to Emily’s Entourage, but it is difficult to deliver and degrades quickly in the body.

The project will focus on identifying a new material that encapsulates the therapy and can be delivered to the lungs through inhalation, all while protecting it from being degraded too quickly.

These awards mark Emily’s Entourage’s sixth round of grant funding, totaling 24 research projects, and more than $5.2 million. A list of all projects funded by Emily’s Entourage is available here.

“We are grateful to the grant recipients and all of the dedicated scientists who are leading the charge to fill critical unmet needs for all people with CF fast — nobody left behind,” Emily’s Entourage wrote.