Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease.
CF is a rare genetic disease found in about 30,000 people in the U.S. If you have CF or are considering testing for it, knowing about the role of genetics in CF can help you make informed decisions about your health care.
If you or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, you may have many questions.
Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Raising a child with cystic fibrosis can bring up many questions because CF affects many aspects of your child’s life. Here you’ll find resources to help you manage your child’s daily needs and find the best possible CF care.
Living with cystic fibrosis comes with many challenges, including medical, social, and financial. By learning more about how you can manage your disease every day, you can ultimately help find a balance between your busy lifestyle and your CF care.
People with CF are living longer, healthier lives than ever before. As an adult with CF, you may reach key milestones you might not have considered. Planning for these life events requires careful thought as you make decisions that may impact your life.
People with cystic fibrosis are living longer and more fulfilling lives, thanks in part to specialized CF care and a range of treatment options.
Cystic Fibrosis Foundation-accredited care centers provide expert care and specialized disease management to people living with cystic fibrosis.
We provide funding for and accredit more than 120 care centers and 53 affiliate programs nationwide. The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF.
The Cystic Fibrosis Foundation provides standard care guidelines based on the latest research, medical evidence, and consultation with experts on best practices.
As a clinician, you’re critical in helping people with CF maintain their quality of life. We’re committed to helping you partner with patients and their families by providing resources you can use to improve and continue to provide high-quality care.
As part of the Cystic Fibrosis Foundation's mission to help improve the lives of people living with cystic fibrosis, the PSDC initiative taps the CF community to inform key efforts to support the management of daily care.
Your cystic fibrosis care team includes a group of CF health care professionals who partner with you to provide specialized, comprehensive CF care.
Many cystic fibrosis patients and families face complicated issues related to getting the care they need. But CF Foundation Compass makes sure that no one has to do it alone.
For many people with cystic fibrosis, dealing with insurance is as much a part of living with the disease as nebulizers and vests. Many people with CF and their families face issues related to getting the care they need, but no one has to do it alone.
The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
The CF Foundation offers a number of resources for learning about clinical trials and treatments that are being developed to improve the treatment of cystic fibrosis.
Our understanding of CF continues to evolve as scientists study what causes the disease and how it affects the body. These insights drive the development of new and better treatments and bring us one step closer to a cure.
Researchers, supported by the CF Foundation, have made tremendous advances to improve the health and quality of life of people with CF. We are committed to providing the tools and resources you need to continuously build upon this work.
Cystic fibrosis is caused by mutations in both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Scientists are examining whether it is possible to correct the mutations through a process called gene editing.
A gene is a series of DNA letters that provides the instructions to build a protein. Because DNA is crucial to the cell, the cell has machinery to fix damage to its DNA. Gene editing uses the cell's own DNA repair machinery to correct the mutation in the cell's DNA. Unlike gene replacement therapy, gene editing corrects the mutations that are in the person's own DNA.
People with cystic fibrosis have a mutation in both copies of the cystic fibrosis membrane conductance regulator (CFTR) gene. To correct the CFTR mutations in someone's DNA, the tools needed for gene editing need to get inside the person's cells, which is very challenging.
Once the tool has gotten into the cell nucleus, the tool must then be able to find a series of about 20 DNA letters that mark the spot of the CFTR mutation out of three billion letters in the human genome. Then, the DNA needs to be broken right near the mutation in the CFTR gene.
There are a few different tools that scientists have found that can locate a specific series of letters in the genome and break the DNA at that place. The most versatile gene editing tool is called CRISPR. CRISPR is often preferred because it is inexpensive compared to other methods and is the easiest to customize -- that is, it is easy to specify which series of DNA letters CRISPR will search for in the genome.
The CRISPR gene editing tools include a “guide” that locates the mutated sequence in the CFTR gene, a template with the correct segment of DNA letters, and “scissors” that break the patient's DNA at the site of the mutation.
Once the tools enter the cell and reach the mutated sequence of DNA, the scissors snip out the mutation. This damage attracts the attention of the cell's DNA repair machinery, which will then use the template to fix the break in the DNA. This permanently corrects the mutation in that cell. This gene editing process can repair one mutation at a time, or groups of similar mutations, depending on how the mutations are arranged in the DNA.
Watch this video to see how CRISPR/Cas9 editing works.
There are other tools that can be used for gene editing, including proteins called TALENs, meganucleases, and zinc finger nucleases. These all work in a similar way to CRISPR, but they are less popular because they are harder to customize and require a lot more time and expertise from researchers.
A major advantage of gene editing is that the changes that it makes to the DNA are permanent. People might require only one treatment with a gene editing tool to have a lasting effect on their disease. However, many challenges still need to be overcome before gene editing can be used to treat CF.
For example, gene editing tools can be customized to find a specific CFTR mutation, but there are more than 1,700 CF-causing mutations. Researchers are studying the effectiveness and efficiency of different techniques in the lab that would allow the correction process to fix anywhere from one mutation to all mutations.
Off-site edits also pose a risk. In theory, gene editing should be a very precise therapy, meaning that the gene editing tool should break the person's DNA only at the site it was designed to find. For CF, the tool would be designed to find the site of the CFTR mutation.
In practice, gene editing is not perfect. Sometimes, gene editing tools break the DNA in the wrong place in the genome. An error like this could result in new mutations in other genes and cause unintended consequences, such as an increased risk for cancer. For this reason, each gene editing tool must be evaluated individually to determine whether it is precise enough to be used in patients.
Current gene editing technologies rely on the cell's own DNA repair machinery to fix the break in the DNA caused by the gene editing tool. However, the cell's DNA repair machinery can only complete its work if the cell undergoes a round of cell division (one cell dividing into two new cells). In an adult, a small population of airway stem cells regularly undergo cell division; however, most of the cells in organs like the lung do not divide. This could mean that gene editing would not be able to correct CFTR mutations in many lung cells unless the stem cells were specifically targeted. New technologies are being developed that might work even in cells that do not divide. These new technologies may allow gene editing to work in more cells in the lung.
Gene editing is an area of very active research and is nearing clinical trials for treating several diseases of the blood, such as sickle cell disease. These diseases are good targets for gene editing because blood cells can be taken out of the body and treated with gene editing tools in the laboratory. Once the gene editing tools have corrected the mutations, the blood cells can be returned to the body.
Treating a disease like CF that affects the lungs and other internal organs is much more difficult because it is very hard to get the gene editing tools into lung cells, a process called gene delivery. Gene editing for CF is currently being tested in cells and animals, and it will be a number of years before it can be safely tested in people.
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