The Cystic Fibrosis Foundation's one-of-a-kind CF research facility helps expedite the early stages of discovering a drug that could correct or improve the function of the defective cystic fibrosis transmembrane conductance regulator (CFTR) protein. The lab bridges the gap between discoveries made at academic institutions and the development of new medications by the pharmaceutical industry.

Based in Lexington, Mass., the unique structure of the CF Foundation Therapeutics Lab enables the scientists they employ to be laser-focused on their research without the distraction of meeting financial or academic targets, accelerating crucial research that otherwise might not move forward.

Bridging CF Drug Discovery and Development

The research lab, created by the Foundation in 2012, moved in 2016 into a new 20,000-square-foot, custom-built facility with four tissue culture rooms, a cell bank room, and a lab for radioactive work.

In the new space, the lab added gene editing and lung stem cell biology to the areas of active research. More than half of the lab's work is now dedicated to identifying promising drugs for rare and nonsense mutations of the CF gene, which prevent CFTR protein from being produced.

To seek out new and better therapies, the lab capitalizes on emerging scientific discoveries related to CFTR modulators, nonsense mutations, gene editing, and stem cell research. The lab devotes about 70 percent of its activity to original research, with the remainder centered on developing resources for the rest of the CF scientific community, as well as generating data for other groups that are working on potential CF therapies.

The CF Foundation Therapeutics Lab tests drug-screening tools and technologies and, when promising, develops them further to make them available to other researchers. In addition, the lab team trains external researchers who need specialized help in developing CF therapies.

Cutting-Edge Research

A key area of focus for the lab is screening chemical compounds to identify the starting points for potential medicines that can help people with all types of CF mutations, with a special emphasis on rare and nonsense mutations.

Building on the lab's expertise in cell culture, gene editing, and stem cell research, the lab's scientists have created a cell culture bank to house cells from people with CF who have rare mutations, including those collected through the RARE study. This cell culture bank will aid in the development of treatments for nonsense mutations and may result in the extension of available therapies to people with rare mutations.

Gene Editing and Stem Cell Research

With an eye on a cure for CF, the Foundation has begun exploring the use of gene editing and induced pluripotent stem (iPS) cells. iPS cells are adult stem cells that scientists genetically reprogram, enabling them to potentially become any cell type in the human body, such as lung cells, heart muscle cells, or nerve cells.

Although much has been learned about stem cells in recent years, it is not clear how they can be used for treatments in the lungs. It is therefore critical to better understand stem cell populations in the airways if we are to advance to the stage of repairing the defective gene by implanting healthy lung stem cells into the lungs, or removing CF lung cells, repairing them, and then putting them back into the body.

As such, stem cell and gene editing research must be conducted in tandem. To capitalize on these emerging technologies, the CF Foundation Therapeutics Lab has hired both gene editing and stem cell biologists to work together to explore and advance new treatments and to get us one step closer to our ultimate goal of a cure.