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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Mucoviscidosis
  • CF
Home > Genetic & Rare Diseases Information Center (GARD) > Cystic fibrosis



Cystic fibrosis
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Cystic fibrosis (CF) is an inherited condition that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections. These infections can cause chronic coughing, and wheezing. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Mucus can also block the digestive tract and pancreas, leading to digestive problems. CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive fashion.[1]


References
  1. Cystic Fibrosis . Genetic Home Reference Web site. January 2008 Available at: http://ghr.nlm.nih.gov/condition/cystic-fibrosis. Accessed August 23, 2011.
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Questions & Answers (Found 7 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Cystic fibrosis click on the boxes below:
More Detailed Information Organizations Medical Products Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines | Selected Full-Text Journal Articles | Basic Information | Newborn Screening
More Detailed Information (Found 24 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • The March of Dimes (MOD) has a fact sheet on Cystic Fibrosis.  Visit the MOD hyperlink to learn more.
    • Genetics Home Reference (GHR) contains information on Cystic fibrosis. Click on the link to go to GHR and review the information.
    • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The National Human Genome Research Institute (NHGRI) created the Talking Glossary of Genetic Terms to help people without scientific backgrounds understand the terms and concepts used in genetic research.  Click on the NHGRI link to learn more about cystic fibrosis.
    • The National Heart Lung and Blood Institute (NHLBI) provides comprehensive information about Cystic Fibrosis.  Click on the NHLBI link to find this information.
    • The National Institutes of Health has a Health Topic page on Cystic fibrosis. Click on National Institutes of Health to view the information page.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cystic fibrosis. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystic fibrosis. Click on the link to view a sample search on this topic.
    • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents. To view this fact sheet, click on the link.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
  • Selected Full-Text Journal Articles

  • Basic Information

  • Newborn Screening

    • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
    • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
    • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
    • Giusti, et al. New York State Cystic Fibrosis Consortium: The First 2.5 Years of Experience With Cystic Fibrosis Newborn Screening in an Ethnically Diverse Population. Pediatrics. 2007;119:e460-e467
    • Comeau, et al. Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report. Pediatrics; 2007;119:e495-e518.   
    • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
    • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 10 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 
Medical Products (Found 4 resources)
Disclaimer
 Specialty Clinics/Treatment Centers | Testing | Genetic Services | Parent Resources
Services (Found 7 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Specialty Clinics/Treatment Centers

    • The Cystic Fibrosis Foundation funds and accredits 115 cystic fibrosis care centers nationwide, including 94 adult programs. In addition, 54 affiliate programs provide multi-disciplinary care for CF with Foundation support. Staffed by teams of dedicated medical professionals, these centers provide CF care, including nutrition, pulmonary care and gastroenterology, as well as psychosocial specialties. To learn more about these centers as well as find one near you, click on the Cystic Fibrosis Foundation link.

  • Testing

    • The American College of Medical Genetics (ACMG) Laboratory Quality Assurance (Lab QA) Committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests.  In part, this is accomplished by the publication of the document "ACMG Standards and Guidelines for Clinical Genetics Laboratories." These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. To view the Technical Standards and Guidelines for CTFR gene mutation , visit the link above.
    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Genetic Services

    • You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:  

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 6 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • Newborn Screening in the Genomic Era: Setting a Research Agenda, December 13, 2010 - December 14, 2010
      Description: This meeting allowed leaders in the fields of genomics and newborn screening to learn from each other and together explore new ways to advance research on new genomic technologies, potential health applications for newborn screening and beyond, and related ELSI issues.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • The Sixth Annual North American Genetic Analysis of ABC Transporters Workshop, September 24, 2009 - September 25, 2009
      Description: The objectives of the meeting were to bring together researchers in the field of ABC transporters to discuss advances in the field and new research findings. Presentations included talks by students and postdoctoral scientists on their current research, overview presentations by leading researchers in the field, and poster presentations. In addition, presentations were given by representatives of rare disease foundations to provide interaction between scientists in the field and the disease foundations. The goals were to bring the top research groups in the field together with representatives from major disease foundations to discuss new data and educate new investigators in the field. New research ideas and funding ideas, productive collaborations, and job opportunities for young investigators were generated.
    • Cystic Fibrosis Liver Disease Clinical Research Workshop, August 31, 2009
      Location: Lister Hill Auditorium, NIH, Bethesda, MD
      Description: Meeting participants reviewed clinical manifestations and pathogenesis of cystic fibrosis (CF) liver disease with the goal of improving diagnostic criteria and treatment options.
    • Macromolecular Interactions and Ion Transport in Cystic Fibrosis, September 25, 2004 - September 26, 2004
 
Clinical Trials & Research (Found 8 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • ClinicalTrials.gov lists trials that are studying or have studied Cystic fibrosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    • The Childhood Liver Disease Research and Education Network (ChiLDREN) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with rare liver diseases through research. Current studies are enrolling people with Alagille syndrome, alpha one-antitrypsin deficiency, bile acid synthesis defects, biliary atresia, cystic fibrosis liver disease, idiopathic neonatal hepatitis, mitochondrial hepatopathies, and progressive familial intrahepatic cholestasis. Click on the link above to learn more.

      Visit the following link to find the participating research center nearest you.
      http://childrennetwork.org/centers.html

    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • The Cystic Fibrosis Research Program is funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) to support investigator-initiated research grants encompassing both fundamental and clinical studies of the etiology, molecular pathogenesis, pathophysiology, diagnosis, and treatment of cystic fibrosis and its complications.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • The Cystic Fibrosis Foundation started a national patient registry to track the health of people with cystic fibrosis (CF) across the United States. The patient registry report tracks the health of more than 23,000 CF patients who receive care at a CF Foundation-accredited care center.The type of information collected includes state of residence, height, weight, gender, genotype, pulmonary function test results, pancreatic enzyme use, length of hospitalizations, home IVs, and complications related to CF. Click on the Cystic Fibrosis Foundation link to read more.

    • The Genetic Diseases of Mucociliary Clearance Consortium (GDMCC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism through research. The Genetic Diseases of Mucociliary Clearance Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

      For more information on the registry see:
      http://rarediseasesnetwork.epi.usf.edu/gdmcc/takeaction/index.htm
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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