Translational Research in Cystic Fibrosis: From Bench to Beside
Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian populations, characterized by the involvement of exocrine glands, causing multisystemic comorbidities. Since the first descriptions of pancreatic and pulmonary involvement in children, technological development...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-05-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.881470/full |
| _version_ | 1818210439811563520 |
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| author | Laura de Castro e Garcia Lucas Montiel Petry Pedro Augusto Van Der Sand Germani Luiza Fernandes Xavier Paula Barros de Barros Amanda da Silva Meneses Laura Menestrino Prestes Luana Braga Bittencourt Marina Puerari Pieta Frederico Friedrich Leonardo Araújo Pinto |
| author_facet | Laura de Castro e Garcia Lucas Montiel Petry Pedro Augusto Van Der Sand Germani Luiza Fernandes Xavier Paula Barros de Barros Amanda da Silva Meneses Laura Menestrino Prestes Luana Braga Bittencourt Marina Puerari Pieta Frederico Friedrich Leonardo Araújo Pinto |
| author_sort | Laura de Castro e Garcia |
| collection | DOAJ |
| description | Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian populations, characterized by the involvement of exocrine glands, causing multisystemic comorbidities. Since the first descriptions of pancreatic and pulmonary involvement in children, technological development and basic science research have allowed great advances in the diagnosis and treatment of cystic fibrosis. The great search for treatments that acted at the genetic level, despite not having found a cure for this disease, culminated in the creation of CFTR modulators, highly effective medications for certain groups of patients. However, there are still many obstacles behind the treatment of the disease to be discussed, given the wide variety of mutations and phenotypes involved and the difficulty of access that permeate these new therapies around the world. |
| first_indexed | 2024-12-12T05:16:38Z |
| format | Article |
| id | doaj.art-dbb088c508c440baa39a9890caa08999 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-12T05:16:38Z |
| publishDate | 2022-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-dbb088c508c440baa39a9890caa089992022-12-22T00:36:45ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-05-011010.3389/fped.2022.881470881470Translational Research in Cystic Fibrosis: From Bench to BesideLaura de Castro e GarciaLucas Montiel PetryPedro Augusto Van Der Sand GermaniLuiza Fernandes XavierPaula Barros de BarrosAmanda da Silva MenesesLaura Menestrino PrestesLuana Braga BittencourtMarina Puerari PietaFrederico FriedrichLeonardo Araújo PintoCystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian populations, characterized by the involvement of exocrine glands, causing multisystemic comorbidities. Since the first descriptions of pancreatic and pulmonary involvement in children, technological development and basic science research have allowed great advances in the diagnosis and treatment of cystic fibrosis. The great search for treatments that acted at the genetic level, despite not having found a cure for this disease, culminated in the creation of CFTR modulators, highly effective medications for certain groups of patients. However, there are still many obstacles behind the treatment of the disease to be discussed, given the wide variety of mutations and phenotypes involved and the difficulty of access that permeate these new therapies around the world.https://www.frontiersin.org/articles/10.3389/fped.2022.881470/fulltreatmentquality of lifecystic fibrosisCFTR modulatorstranslational research |
| spellingShingle | Laura de Castro e Garcia Lucas Montiel Petry Pedro Augusto Van Der Sand Germani Luiza Fernandes Xavier Paula Barros de Barros Amanda da Silva Meneses Laura Menestrino Prestes Luana Braga Bittencourt Marina Puerari Pieta Frederico Friedrich Leonardo Araújo Pinto Translational Research in Cystic Fibrosis: From Bench to Beside Frontiers in Pediatrics treatment quality of life cystic fibrosis CFTR modulators translational research |
| title | Translational Research in Cystic Fibrosis: From Bench to Beside |
| title_full | Translational Research in Cystic Fibrosis: From Bench to Beside |
| title_fullStr | Translational Research in Cystic Fibrosis: From Bench to Beside |
| title_full_unstemmed | Translational Research in Cystic Fibrosis: From Bench to Beside |
| title_short | Translational Research in Cystic Fibrosis: From Bench to Beside |
| title_sort | translational research in cystic fibrosis from bench to beside |
| topic | treatment quality of life cystic fibrosis CFTR modulators translational research |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.881470/full |
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