Emily’s Entourage Symposium on Nonsense Cystic Fibrosis Mutations

On Jan. 21, Emily’s Entourage hosted a scientific symposium to accelerate research for nonsense mutations of Cystic Fibrosis in partnership with Penn Medicine’s Orphan Disease Center. The event kicked off at a festive dinner and cocktail party the evening before.

SHS_7463At the symposium, the world’s top CF minds from biotech, academia, pharma and the CF Foundation met for the first time to share their work and form new collaborations and an action plan to spur discovery of new treatments for those with nonsense CF mutations like Emily. Unlocking the mystery of Emily’s mutation could inform not only other nonsense mutations of CF, but one third of all genetic diseases which are also caused by nonsense mutations.

The symposium was especially timely in light of President Obama’s “precision medicine” announcement and the person with CF that joined First Lady Michelle Obama the previous night at the State of the Union Address. After all, the symposium was the very essence of precision medicine in action.

Throughout the day, presenters discussed nonsense mutations from every angle with a focus on Emily’s W1282X (Ashkenazi Jewish) mutation. They shared up-to-the-minute, often not-yet-published research findings in a spirit of true collaboration and commitment to advancing the mission of Emily’s Entourage.

SHS_7404Welcoming remarks were made by symposium co-hosts Dr. Jim Wilson, Orphan Disease Center Director, our very own Emily and Dr. Kevin Foskett, Chair of Physiology at Penn’s Perelman School of Medicine, followed by an impressive line-up of presenters:

1. David Bedwell, PhD (University of Alabama at Birmingham)
2. Lynne Maquat, PhD (University of Rochester Center for RNA Biology Director)
3. Batsheva Kerem, PhD (Hebrew University of Jerusalem)
4. Steven Rowe, MD, MSPH (CF Foundation Therapeutics Development Network Center Director, CF Transition Clinic Director, University of Alabama)
5. Gergely Lukacs, MD, PhD (CF Translational Research Centre at McGill University)
6. Walter Finkbeiner, MD, PhD (University of California San Francisco)
7. Alan Verkman, MD, PhD (University of California San Francisco)
8. H. Lee Sweeney, PhD (University of Pennsylvania Perelman School of Medicine)
9. Ellen Welch, PhD (VP of Biology/Genetic Disorders, PTC Therapeutics)
10. Paul Negulescu, PhD (VP of Research, Vertex Pharmaceuticals)
11. William Skach, MD (VP for Research Affairs, CF Foundation Therapeutics)

In addition to Vertex and PTC, industry representatives from Pfizer, Sanofi, GlaxoSmithKline, N30 Pharmaceuticals and Deloitte Global Life Sciences Sector attended as well.

Speakers and attendees shared their delight at meeting esteemed colleagues whose names they had long seen in scientific journals. Most of all, they shared their excitement about the symposium’s unique, highly targeted focus and commented on how motivating it was to meet Emily personally and put a face and story to their everyday work.

“I was so impressed by the camaraderie in the room,” said Emily’s mom and EE co-founder Liza Kramer. “There was so much excitement, so much hope. You could see all the different scientists’ heads spinning as each presenter spoke. New ideas and new collaborations were forming before our very eyes, and it was just so thrilling and promising to see.”

At the conclusion of the symposium, Dr. Foskett pledged to create a coordinated action plan based on the day’s presentations and discussions, and he requested the attendees’ commitment to expeditious and collaborative execution.

SHS_7138Emily summed it up nicely: “I feel absolutely supercharged from this symposium. These are the smartest people I’ve ever met and to have them working on our disease is a huge privilege and gives me so much hope. I firmly believe that if anyone can solve the nonsense CF mutation paradigm, it’s them—and Emily’s Entourage will do whatever it takes to help them get there as soon as (super)humanly possible. Together, we can do this!”

Amen. And together, we will!

On behalf of everyone at Emily’s Entourage, we want to extend our most heartfelt thank you to the Penn Orphan Disease Center, the wonderful speakers, attendees, and most of all, our fearless symposium leader – the one and only Dr. Kevin Foskett.

View photos from the event

If you are interested in learning more or getting involved, please contact us by filling out the contact form.

Leave a Reply