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Related Concept Videos

Cystic Fibrosis: Management01:24

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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Microorganisms in Medicine and Therapeutics01:29

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Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
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The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
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Updated: Nov 6, 2025

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
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Gene Therapy: A Possible Alternative to CFTR Modulators?

J Mercier1, M Ruffin1, H Corvol1,2

  • 1Sorbonne Université, Inserm, Centre de Recherche, Saint Antoine, F-75012, Paris, France.

Frontiers in Pharmacology
|May 10, 2021
PubMed
Summary
This summary is machine-generated.

Cystic fibrosis treatments have improved life expectancy, but gene therapy remains an ultimate goal. New CFTR modulator drugs offer benefits, yet gene therapy

Keywords:
cystic fibrosisgene therapyivacaftorlumacaftorpersonalized medicinetezacaftor

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Area of Science:

  • Medical Genetics
  • Pulmonology
  • Pharmacology

Background:

  • Cystic fibrosis (CF) is a genetic disorder primarily affecting the lungs, causing significant morbidity and mortality.
  • The discovery of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene in 1989 paved the way for understanding CF.
  • While life expectancy has increased due to supportive care and symptomatic treatments, a definitive cure for CF is still lacking.

Purpose of the Study:

  • To evaluate the current landscape of CF treatment, focusing on CFTR modulator therapies and the persistent role of gene therapy.
  • To discuss the potential long-term impact of emerging CFTR correctors and potentiators on patient quality of life and life expectancy.
  • To explore the continued relevance and potential of gene therapy in the context of advancements in small molecule treatments for CF.

Main Methods:

  • Review of current literature on CFTR modulator drugs (correctors and potentiators).
  • Analysis of the limitations and accessibility of existing CFTR therapies.
  • Discussion of the potential future role of gene therapy for cystic fibrosis.

Main Results:

  • CFTR modulator drugs have improved lung function and quality of life for many CF patients.
  • Current modulator therapies are not universally available or effective for all CFTR mutations.
  • Long-term benefits of early and sustained use of modulator drugs on life expectancy are not yet fully established.

Conclusions:

  • While CFTR modulators represent significant progress, they are not a cure and face accessibility challenges.
  • Gene therapy, despite not yet being clinically realized, remains an attractive alternative and potential future curative strategy for CF.
  • The development of new CFTR correctors and potentiators necessitates a re-evaluation of the ongoing role and potential of gene therapy in managing cystic fibrosis.