Gene therapy landscape.

What is the potential of gene therapy for your patients with inherited retinal diseases (IRDs)?

Gene therapy research over the past decade raises hope for the development of future treatments for rare disease for which few therapeutic options currently exist.1

Gene therapy research is advancing.

For more than 50 years scientists have been investigating and evolving gene therapy with the goal of treating or possibly preventing genetic disease.

Pursuing this goal has led to increasing interest and activity in the development of gene and cell therapy products. To date, more than 2,600 gene therapy clinical trials are planned, ongoing, or have been completed. Playing crucial roles in the advancement of gene therapy research are patient organizations, small biotechnology companies, and academic centers.2-6

In the last few decades, research has produced dramatic improvements in the ability to identify mutated genes and diagnose genetic disorders. Advancements in gene therapy research are raising the potential to address genetic disease.7 See what your patients are learning about genetic testing.

Gene therapy vs. cell therapy.

Gene therapy uses genetic material to manipulate the patient’s cells for the potential treatment of an inherited or acquired disease. This may involve the transfer of genetic material through the administration of nucleic acids, viruses, or genetically engineered microorganisms, with the intention of regulating, repairing, replacing, adding, or deleting a genetic sequence.8-10

Cell therapy treats diseases in patients through transplanting live whole cells or maturation of a specific cell population.8

Gene therapy research has the potential to find ways to treat many diseases, some that are partly or fully caused by genetic mutations, such as:8,11,12

Vision disorders

Vision disorders

Cardiovascular diseases

Cardiovascular diseases

Neurodegenerative disorders

Neurodegenerative disorders

Musculoskeletal diseases

Musculoskeletal diseases

Blood clotting disorders

Blood clotting disorders, for example hemophilia

Video: The history and focus of gene therapy research.


How is gene-based therapy delivered?

Emerging developments in gene therapy research, such as using vectors to introduce genetic material in the target tissue, reinforce the importance of genetic testing for your patients with IRDs.

Approaches to gene therapy research


  1. O’Reilly M, Kohn DB, Bartlett J, et al. Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13 2012. Hum Gene Ther. 2013;24(4):355-362.
  2. Food and Drug Administration, US Department of Health and Human Services. Guidance for industry: gene therapy clinical trials–considerations for the design of early-phase clinical trials of cellular and gene therapy products. Information/Guidances/CellularandGeneTherapy/UCM564952.pdf. Published June 2015. Accessed August 22 2017.
  3. Bender E. Gene therapy: industrial strength. Nature. 2016;537(7619):S57-S59.
  4. Phases of gene therapy clinical trials. J Gene Med. Updated August 2016. Retrieved February 24, 2017.
  5. Scherman D, ed. Advanced Textbook on Gene Transfer, Gene Therapy, and Genetic Pharmacology: Principles, Delivery and Pharmacological and Biomedical Applications of Nucleotide-Based Therapies. London, UK: Imperial College Press; 2014.
  6. Friedmann T. Changing roles for academia and industry in genetics and gene therapy. Mol Ther. 2000;1(1):9-11.
  7. High KA. The Jeremiah Metzger Lecture: gene therapy for inherited disorders: from Christmas disease to Leber’s amaurosis. Trans Am Clin Climatol Assoc. 2009;120:331-359.
  8. American Society of Gene & Cell Therapy. Gene therapy and cell therapy for diseases. Accessed November 10 2016.
  9. Wirth T, Parker N, Ylä-Herttuala S. History of gene therapy. Gene. 2013;525(2):162-169. 22.
  10. Food and Drug Administration, US Department of Health and Human Services. Guidance for industry: gene therapy clinical trials–observing subjects for delayed adverse events. Published November 2006. Accessed November 11 2016.
  11. Kotterman MA, Schaffer DV. Engineering adeno-associated viruses for clinical gene therapy. Nat Rev Genet. 2014;15(7):445-451.
  12. Mayo Clinic Gene Therapy Overview. Published September 2016. Accessed August 22 2017.