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Related Concept Videos

Gene Therapy00:59

Gene Therapy

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 inserted. The...
Gene Therapy00:59

Gene Therapy

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 inserted. The...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

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.
Sinus disease and chronic sinusitis...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

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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Staphylococcus aureus and Pseudomonas aeruginosa co-infection is associated with cystic fibrosis-related diabetes and poor clinical outcomes.

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Related Experiment Video

Updated: Jun 29, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Gene therapy progress and prospects: alpha-1 antitrypsin.

A A Stecenko1, K L Brigham

  • 1Center for Treanslational Research in the Lung, McKelvey Center for Lung Transplantation, Department of Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.

Gene Therapy
|February 7, 2003
PubMed
Summary
This summary is machine-generated.

Gene therapy for alpha-1 antitrypsin (AAT) deficiency shows promise. Advances in viral and nonviral vectors aim for long-term AAT gene expression, potentially offering new therapeutic avenues for AAT-related lung diseases.

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Last Updated: Jun 29, 2026

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Published on: December 7, 2021

Area of Science:

  • Gene therapy
  • Pulmonology
  • Biotechnology

Background:

  • Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder.
  • Current treatments include AAT protein replacement therapy.

Purpose of the Study:

  • To review progress in AAT gene therapy for AAT deficiency.
  • To explore the potential of novel vector designs for therapeutic gene delivery.

Main Methods:

  • Clinical studies involving nasal gene delivery using plasmid-liposome complexes.
  • Development of viral (adeno-associated vectors) and nonviral gene delivery systems.

Main Results:

  • One clinical study completed using plasmid-liposome complexes for nasal AAT gene delivery.
  • Advances in vector design show promise for long-term transgene expression.

Conclusions:

  • Local AAT gene expression in lung cells may be a feasible therapeutic strategy.
  • Future strategies may include in vivo gene repair for AAT deficiency.