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.
Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A person must inherit two copies of the CFTR gene that contain mutations -- one copy from each parent -- to have cystic fibrosis.
People who inherit one copy of the CFTR gene that contains a mutation and one normal copy are considered
CF carriers. CF carriers do not have the disease but can pass their copy of the defective gene on to their children.
Each of our cells contains genetic information that provides the body with coded instructions to make proteins, which determine how the body looks, develops, and works.
Genetic information is stored in chromosomes, which can be thought of as different volumes of our genetic encyclopedia. Humans have 23 pairs of chromosomes. Each pair is made up of one copy of a chromosome from the mother and one from the father.
Most cells in the body have a full copy of the genetic encyclopedia, which includes 23 pairs of chromosomes. However, eggs and sperm have only a single copy of each chromosome, rather than the pairs found in other cells in the body.
Each chromosome is made up of many genes, which are the entries, or topics, in the encyclopedia. The genes supply the body with instructions for making proteins.
All of this genetic information that makes up our genes is in code and stored as a molecule called deoxyribonucleic acid (DNA). The DNA code is made up of letters that spell out the entries of our genetic encyclopedia.
If we all shared 100 percent of our genetic material then we would all be as alike as identical twins are. But not every single letter in the genetic encyclopedia is the same in all of us, which helps to explain why we are not all exactly alike.
Different types of changes, or mutations, in our genes affect the body in different ways. Within our genetic encyclopedia, there are small differences in our genes. Sometimes the differences are minor or do not affect a person's health -- like two encyclopedia entries that are worded in slightly different ways but still say the same thing. In these cases, people's
genes may differ or the protein made by the gene is slightly different – resulting in a different eye color -- but the genes and the proteins work correctly.
At other times, the change in a gene may cause the protein to not work or not be made at all. Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for
regulating the flow of salt and fluids in and out of the cells in different parts of the body.
In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.
Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas, and complications in other organs.
Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation in both copies of the CFTR gene to have CF. If someone has a mutation in only one copy of the CFTR gene and the other copy is normal, he or she does not have CF and is a CF carrier. About 10 million people in the United
CF carriers can pass their copy of the CFTR gene mutation to their children. Each time two CF carriers have a child together, the chances are:
People with CF can also pass copies of their CFTR gene mutations to their children. If someone with CF has a child with a CF carrier, the chances are:
Children of two carriers may be CF carriers like their parents. In a family with four children, it is possible that none of the children, some of the children, or all of the children will have CF. Each baby has the same chance to inherit CFTR mutations
from both parents, no matter whether any of the other siblings are carriers or have CF. When someone with CF has children with a CF carrier, the children will either be CF carriers or have CF.
Follow Us On
With more than 70 chapters and offices across the country, it’s easy to find and join a local Cystic Fibrosis Foundation chapter near you.
Cystic Fibrosis Foundation
4550 Montgomery Ave.
Suite 1100 N
Bethesda, MD 20814
800-344-4823 (toll free)
Sign up for our emails