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Posts tagged ‘Gene Therapy’

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, 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.
Ref; For full interview go to: Targeting Drugs for Rare Disease

Ref; – Genetics Home Reference, Your Guide to Understanding Genetic Conditions

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Research on “Gene Therapy Topical Ointment” Continues

Recent groundbreaking siRNA research, led by Northwestern University’s Chair of Dermatology,  Dr. Amy Paller, has inspired new hope for silencing  the underlying mutation of EI (epidermolytic ichthyosis) and its changes to the skin surface.Medical Stock-125943563-web

So what exactly is siRNA?
siRNAs are small interfering RNAs (sometimes called silencing RNAs) that “interrupt” the expression of a specific gene. They can recognize even the tiniest genetic change specifically, and thus can distinguish a normal gene from an abnormal gene. As one might imagine, their discovery has caused a surge in biomedical research and drug development for a variety of diseases.  Now, that surge has crossed paths with EI.

How can siRNA effect EI?
The blistering and thickening of skin seen in EI patients usually results from a change in a single letter of the DNA code (a mutation) that provides the codes for manufacturing keratin protein in the upper layers of skin. This single letter change leads to a protein product (a keratin) which is produced but does not function normally. In a dominant disease, both a normal and an abnormal gene and mRNA exist.  However, siRNAs can identify the abnormal strands of messenger RNA (the intermediary between the mutant gene and the abnormal protein), bind to them, and prevent the altered gene from being translated into protein.  Until now, the problem with siRNA has been getting it through the skin barrier, the outermost layer of the epidermis, and into the cells making the bad protein.

Paller, Amy-2012-WEBEnter:  Dr. Amy Paller, her extraordinary medical research team, and the fascinating field of nanotechnology*.  
Dr. Paller and her team have discovered that siRNA, attached to a “central 13nm gold nanoparticle”  can be rubbed into the skin in a simple topical ointment!  In 2012, her research was rewarded a $75,000 grant, by the 2012 FIRST Research Grant Program.  As of late, “We’ve developed 3-dimensional models of EI skin in culture and have also grafted EI skin to mouse models.  We have found some siRNAs that prevent the gene from being expressed, but are testing them to find the best one that affects the abnormal, but not the normal gene,” said Paller.    Read the full article here.

How will members of FIRST benefit from this research?
This type of non-viral, topically applied gene therapy holds promise for individuals with EI, as well as other dominantly inherited ichthyotic condition.  If such drugs can be delivered by topical applicaoitn, that would be a great advance.  FIRST is committed to providing the latest progress of this research, as well all related news and information.  Please visit our site as frequently as possible for the most recent updates. We also invite you to join our email list at:

*Nanotecnology.def: n. a technology executed on the scale of less than 100 nanometers, the goal of which is to control individual atoms and molecules, especially to create computer chips and other microscopic devices.