Cystic fibrosis
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Cystic fibrosis (CF) is a genetic disease 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 (or germs) to get stuck in the airways, which causes inflammation (or swelling) and infections.[1] These infections can cause chronic coughing, and wheezing.[2] Over time, mucus buildup and infections lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.
Mucus also can block the digestive tract and pancreas. The mucus stops digestive enzymes from getting to the intestines. The body needs these enzymes to break down food, which provides important nutrients to help us grow and stay healthy. People with cystic fibrosis often need to replace these enzymes with capsules they take with their meals and snacks to help digest the food and get the proper nutrition.
For more information about Cystic fibrosis click on the boxes below:
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- More Information (Found: 21 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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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.
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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.
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The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
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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.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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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.
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PubMed lists journal articles that discuss Cystic fibrosis. Click on the link to go to PubMed and review citations to these articles.
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Genetics Home Reference (GHR) contains a condition summary on Cystic fibrosis. Click on the link to go to GHR and review this summary.
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The National Heart Lung and Blood Institute (NHLBI) provides comprehensive information about Cystic Fibrosis. Click on the NHLBI link to find this information.
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The March of Dimes (MOD) has a fact sheet on Cystic Fibrosis. Visit the MOD hyperlink to learn more.
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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.
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The National Institutes of Health has a Health Topic page on Cystic fibrosis. Click on National Institutes of Health to view the information page.
- Management Guidelines
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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
- Brochure/Printed Materials
- Newborn Screening
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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.
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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.
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The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The 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. Click on the link above to view the report.
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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
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Comeau, et al. Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report. Pediatrics; 2007;119:e495-e518.
- Support Groups (Found: 8 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Research & Clinical Trials (Found: 5 Resources)
Resources where you may find research studies and clinical trials
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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.
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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.
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The Cystic Fibrosis Research Program supports 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.
- Patient Registry
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The Genetic Diseases of Mucociliary Clearance Consortium (GDMCC) has created a patient registry for individuals that have cystic fibrosis. You can learn more about the patient registry as well as about clinical trials by clicking on the GCMCC link above or by contacting the research coordiantor below.
Susan Minnix, RN, BSN
Research Coordinator
4007 Thurston Bowles Bldg. CB#7248
Chapel Hill, NC 27599-7248
FAX: 919-843-5309
Email: sminnix@med.unc.edu
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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.
- Services (Found: 4 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Specialty Clinics/Treatment Centers
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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
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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.
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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.
- Genetic Services
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
- More Search Tools (Found: 1 Resources)
Resources to help you find more information on this topic
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.