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Posts tagged ‘rare disease research’

What Exactly is Gene Therapy?

Today, one can hardly read the health and science section of a national newspaper, let alone any medical journal, without seeing a story related to the field of gene therapy, targeted drug therapy or genomics (the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes). But what exactly is gene therapy, and how does it apply to rare disease?

In simple terms, gene therapy is an experimental technique that uses genes to treat or prevent disease. In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. Researchers are testing several approaches to gene therapy, including:

  • Replacing a mutated gene that causes disease with a healthy copy of the gene. For example, TALEN and CRISPR technology cuts out the mutated region and splices in the normal gene.
  • Inactivating (“knocking out”) or suppressing (“knocking down”) a mutated gene that is functioning improperly.  For example, FIRST and NIH-funded research in Dr. Amy Paller’s laboratory at Northwestern University is using nanotechnology to preferentially “knock down” the mutated keratin 10 gene.
  • Introducing a new gene into the body to help fight a disease.

Gene Therapy and Rare Disease

Additionally, there is an increasing interest in the research of gene therapy as it pertains to rare genetic disease. According to a recent article on Medscape.com, Targeting Drugs for Rare Disease, Gayatri R. Rao, MD, JD, Director for the Office of Orphan Products Development (OOPD), states “…increasingly in the routine practice of medicine, we are seeing more patients with rare diseases. Part of the reason for that is an increase in the diagnosis of rare diseases. Before, we would cluster groups of patients into syndromes, and now we are realizing that there are actually different disease states.”

Additionally, Rao notes, “Not only are more patients being diagnosed, but from a therapeutic standpoint, interest has increased in the development of therapies for rare diseases as a result of an increased understanding of genomics. We are able to target therapies, which has expanded interest in the treatment of rare diseases.”

It seems the more gene mutation targets that are discovered, the more main stream diseases are fitting into the “rare disease” category.

With regard to the effect this evolving focus on orphan diseases will have on medical research in general, Rao states, “This will have an impact on every field of medicine. Moving forward, the lessons being learned from the orphan products group will be applied across the rest of the regulatory landscape and to medicine in general.”

Although gene therapy is a promising treatment option for a number of diseases (including inherited disorders like ichthyosis, some types of cancer, and certain viral infections), the technique remains risky and is still under study to make sure that it will be safe and effective. Gene therapy is currently only being tested for the treatment of diseases that have no other cures.
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Ref; For full interview go to: Targeting Drugs for Rare Disease http://www.medscape.com/viewarticle/834442

Ref; http://ghr.nlm.nih.gov/handbook/therapy/genetherapy – Genetics Home Reference, Your Guide to Understanding Genetic Conditions


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