News

Emily's Entourage (EE) is incredibly honored to have a group of scientists dedicated to accelerating research and drug development for nonsense mutations of Cystic Fibrosis (CF). In the next year, 90% of the CF population could see the benefits of a life-saving drug on the market (currently pending FDA review and approval), but those in the final 10%, including those with nonsense mutations, will not benefit from these new breakthrough drugs.

And in fact, the commitment of the scientists run so deep that it is not merely limited to their "day job" at the lab advancing critical research. Rather, at times, it permeates many aspects of their lives. There is no better example of that than University of Rochester's John Lueck, PhD, who has decided not only to do research to speed breakthroughs and a cure for the final 10%, but also to raise the funds that will drive the critical research.

Over the last few months, Dr. Lueck has trained to climb The Matterhorn in the Swiss Alps, a mountain he tackled on August 22 that reaches almost 15,000 feet high. As a two-time EE grantee through the Catalyst for a Cure Campaign, he flipped the script and committed to raise funds for EE throughout the entire training process!

Michael Golinkoff (left), one of the founders of Emily's Entourage; Phil Thomas (middle), cystic fibrosis researcher at UT Southwestern, John Lueck (right), assistant professor of Pharmacology and Physiology at URMC.

There are all sorts of "typos" in our DNA that can lead to disease. One kind of typo -- a premature termination codon or PTC -- is responsible for 10 to 15 percent all genetic diseases, including cystic fibrosis and Duchenne muscular dystrophy. PTCs lead to the production of short and often deleterious proteins.

A recent paper by John Lueck, Ph.D., assistant professor of Pharmacology and Physiology and Neurology, shows how high-throughput screening may be used to fix these typos and lessen disease severity. Published in Nature Communications, the study found that modifying tRNA (a type of RNA molecule that helps convert messenger RNA or mRNA into protein) can help the cell make a full length protein, even with a PTC in the middle of the gene. With this new technology to modify tRNA, the authors were able to use gene therapy to suppress faulty versions of a gene in skeletal muscle, and instead force the cells to produce a full-length protein.

At the moment, most investigational therapies for inherited diseases are focused on small molecules, which to this point have not been successful. "For many of these diseases, including cystic fibrosis and Duchenne muscular dystrophy, there are no therapies and patients rely on palliative care," explains Lueck. "Our engineered tRNA platform puts another iron in the fire for development therapeutics and we're hopeful that the technology can be translated into a viable treatment for patients in the near future."

While these studies are still in the early stages, Lueck was recently awarded a unique pilot grant from Vertex Pharmaceuticals to continue this work. This work was funded by Emily's Entourage and the Cystic Fibrosis Foundation and accomplished with the collaboration of researchers at the Cystic Fibrosis Foundations Therapeutics Lab, the Wistar Institute, University of Iowa, and Integrated DNA Technologies, Inc.

Emily's Entourage (EE) is delighted to learn that John Lueck, PhD was recently given a Vertex CF Research Innovation Award of $750,000 over three years to further his research on nonsense mutations of Cystic Fibrosis (CF). In 2017, through the "Catalyst for a Cure Campaign," EE funded research done by Dr. Lueck, Chris Ahern, PhD, and Paul McCray, MD that focused on using engineered transfer-RNA molecules to genetically repair the W1282X-CFTR nonsense mutation. We are pleased that Dr. Lueck has been given the opportunity to continue this critical groundwork:

"EE's funding brought me into the field of CF research with the specific focus to develop technology for treatment of W1282X. Through the enriching EE scientific community, we have formed collaborations that have propelled our research into new exciting directions that otherwise would not have been explored. Using our results obtained through EE funding as a foundation, we're working to develop optimal delivery methods of our engineered tRNA platform to target nonsense mutations within the CFTR gene in human airway epithelium."

Congratulations, Dr. Lueck, on this incredible award! We're so grateful for your steadfast commitment to accelerating breakthroughs for nonsense mutations of CF! Thank you for seeing beyond to a better future for everyone with CF!

Emily's Entourage is an innovative 501(c)3 foundation that accelerates research for new treatments and a cure for nonsense mutations of Cystic Fibrosis, a fatal genetic disease afflicting Emily and many others. Named a Champion of Change for President Obama's Precision Medicine Initiative, Emily's Entourage has awarded over $3.4 million in research grants since 2011 and led worldwide efforts to drive high-impact research and drug development.