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CFTR2: How will it help care?
- Source :
- Paediatric Respiratory Reviews. 14:2-5
- Publication Year :
- 2013
- Publisher :
- Elsevier BV, 2013.
-
Abstract
- The Clinical and Functional Translation of CFTR (CFTR2) project presents a novel approach to clinical and functional annotation of mutations identified in disease-causing genes. Phenotype and genotype information on approximately 40,000 cystic fibrosis (CF) patients were collected from registries and large clinics. The disease-liability of the 160 most frequently reported mutations was evaluated by means of a multistage process which involved clinical (sweat chloride average), functional (expression in cell-based systems) and epidemiological (mutation analysis in obligate heterozygotes) steps. The results of this analysis can be consulted in a dedicated website. Data originated by CFTR2 may be valuable in several facets of CF care, including diagnosis, newborn screening, carrier testing, genotype/phenotype correlation and mutation-specific therapeutics.
- Subjects :
- Pulmonary and Respiratory Medicine
medicine.medical_specialty
Cystic Fibrosis
Genotype
DNA Mutational Analysis
Cystic Fibrosis Transmembrane Conductance Regulator
Pilot Projects
Carrier testing
Bioinformatics
medicine.disease_cause
Cystic fibrosis
Neonatal Screening
Chlorides
Epidemiology
Humans
Medicine
Sweat
Mutation
Newborn screening
business.industry
Infant, Newborn
Heterozygote advantage
medicine.disease
Phenotype
Pediatrics, Perinatology and Child Health
business
Subjects
Details
- ISSN :
- 15260542
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- Paediatric Respiratory Reviews
- Accession number :
- edsair.doi.dedup.....1fd0703d0c24cad92fc66e01f3502ed7