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 people living with cystic fibrosis and their families face complicated issues related to getting the care they need. Cystic Fibrosis Foundation Compass makes sure that no one has to do it alone.
CF Foundation Compass is a service that helps people with CF and their families with navigating insurance options, connecting to legal information and experts, finding available financial resources, and tackling other life issues.
CF care team members are paramount in providing highly specialized care to people living with CF. CF Foundation Compass can help by serving as a strategic ally for care teams, so team members can focus on their patients’ care.
CF Foundation Compass can help you navigate insurance, financial, legal, and other issues you are facing. Use this online form to start your conversation with a Compass case manager today.
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.
Dr. Skach discusses the latest advances in CF research and exciting new approaches to address the underlying cause of the disease.
July 15, 2015
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Our Day on the Hill
As vice president for research affairs, William R. Skach, M.D., guides basic research efforts, drug discovery and preclinical therapeutic development programs for the Cystic Fibrosis Foundation.
He was previously professor in the Department of Biochemistry and Molecular Biology at Oregon Health & Science University, where he continues to run a research lab studying fundamental aspects of CFTR, the key protein in cystic fibrosis.
Dr. Skach recently discussed the latest advances in CF research and exciting new approaches to address the underlying cause of the disease.
On July 2, the FDA approved the lumacaftor/ivacaftor combination drug (Orkambi™) for people with CF ages 12 and older with two copies of the F508del mutation. This represents about one-third of the CF population in the United States. Nearly half of individuals with CF have two copies of this mutation and could eventually benefit from the therapy.
The Foundation is supporting the discovery and development of more therapies that modulate the defective CFTR protein in people with CF. Vertex is conducting several clinical trials of ivacaftor combined with another potential drug, VX-661, in people with either one or two copies of F508del.
A number of other leading pharmaceutical companies are investigating small molecule compounds that could similarly correct the misfolded CFTR protein caused by the F508del mutation. In April, Cystic Fibrosis Foundation Therapeutics Inc. (CFFT), the nonprofit affiliate of the Cystic Fibrosis Foundation, announced a $14 million expansion of its research agreement with Genzyme to promote development of new treatments for people with F508del.
There is now a large, coordinated effort to develop treatments for people with CF mutations other than F508del.
One major ongoing initiative, called CFTR2, is focused on defining the genetics and clinical characteristics of different CF mutations, including rare mutations that we know very little about. The project is overseen by Dr. Christopher Penland at the Foundation and led by a team at Johns Hopkins University, aided by collaborators in Canada and Italy.
CFTR2 has gathered information on nearly 40,000 people with CF from around the world and has so far described the characteristics of about 160 mutations.
Some exciting new strategies in the early stages target groups of mutations, including those known as nonsense and splicing mutations, by addressing earlier cellular processes that generate the protein.
One example is RNA therapy, in which CFTR messenger RNA is either added directly to cells for production of a normal CFTR protein or the defective messenger RNA is repaired in the cell. A research project is currently underway with the biopharmaceutical company Shire plc to investigate a novel technique of delivering normal messenger RNA directly to the lungs of a person with CF.
Another strategy, called gene editing, takes advantage of emerging technology that is capable of repairing the faulty gene itself.
The Foundation is exploring gene editing and stem cell research. While much has been learned about peripheral stem cells in recent years, it is not yet clear exactly how they can be used in the lungs. First, we need to identify critical stem cell populations in the airways, understand how they behave and then develop ways to correct the CFTR gene. Thus, stem cell research must go hand in hand with work on gene editing.
Because they are so new, these strategies will likely take time to develop. Efforts in these areas are therefore being expanded alongside the next generation of CFTR modulators to bring them to people with CF as soon as possible.
Former Writer/Editor, Cystic Fibrosis Foundation
Dora previously worked at the Foundation as a writer and editor. During her tenure, she loved to listen to others share their memories and experiences, and consumed storytelling in all of its different forms. She constantly looks for the uniqueness in everyone's story. Dora has a B.A. in communications from the University of Maryland, College Park, and an M.S. in public policy and administration from the London School of Economics. Born in Budapest, Hungary, Dora was raised mainly in the Washington, D.C., metropolitan area where she currently resides today.
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This site contains general information about cystic fibrosis, as well as personal insight from the CF community. It is not intended as a substitute for treatment advice from a medical professional. Consult your doctor before making any changes to your treatment.
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