Emily’s Entourage Opens Its Philly Marathon Team to CF Community

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by Patricia Inácio, PhD |

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A nonprofit’s entry in the Philadelphia Marathon, Team EE is looking for enthusiastic people to join it for the November race that will help to raise funds for the 10% of people whose cystic fibrosis (CF) is caused by nonsense mutations.

As a member of the Emily’s Entourage marathon team (Team EE) you can pledge to raise $1,500 (full marathon run), $750 (half marathon run), or $500 (virtual race) before the actual race, scheduled for the weekend of Nov. 20-21.

Those wishing to join Team EE can do so by registering on its “Start Fundraising” page here. Follow the instructions to create an account, and then customize your fundraising page. Participants are asked to share their page with friends and family via email and social media.

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause CF. The gene carries the instructions for the CFTR protein that is responsible for regulating salt and water balance in organs surfaces, such as the lung.

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Cells with a defective CFTR produce thick and sticky mucus that accumulates in the airways, and creates clogs that foster bacteria growth, which can severely impair the lungs and their function.

Different types of CFTR mutations have different effects on the CFTR protein.

Nonsense mutations lead to a premature stop codon — a set of three nucleotides, the building blocks of DNA. This causes the cell to produce a truncated form of the CFTR protein, which is quickly degraded within the cell.

Significant therapeutic breakthroughs, particularly CFTR modulators, have been made for 90% of CF patients, but these are lacking for the remaining 10% of CF patients with nonsense mutations, typically rare CF mutations.

Emily’s Entourage, co-founded by Emily Kramer-Golinkoff, whose disease is due to a nonsense mutation, is working to change this for people with CF and others with genetic diseases caused by nonsense mutations.

“We see ourselves as the hub for nonsense mutations and our strategy involves building an infrastructure and a pathway so development of therapeutics for nonsense mutations can be a straight shot,” Kramer-Golinkoff said in a 2020 interview with Global Genes. “We provide connections to people, to ideas, to resources, and to funding. We provide impetus and urgency … [because] that 10 percent is still living with the same killer of a disease where we are still just treating symptoms as opposed to the root cause of the disease.”

Those joining Team EE at the Philadelphia marathon will be greeted by EE’s cheer squad, and can join their team photo before the marathon’s start. As a token for participating, each fundraiser will receive a Team EE goodie bag and a performance shirt.

Since its founding in Pennsylvania in 2011, Emily’s Entourage has raised millions of dollars in research grants, and provided seed funding for the CF gene therapy company now known as Spirovant. It has also spearheaded efforts to enhance CF research and therapy development.