A view into the science of gene therapy research

Spark Therapeutics has created a video that explains the exciting science behind gene therapy research. It’s a short look at how scientists are working to address rare genetic diseases, including inherited retinal disease.

At Spark Therapeutics, we often hear from members of the inherited retinal disease (IRD) community about your interest in better understanding gene therapy research. Gene therapy research has been ongoing for over 50 years, and in that time, science has made dramatic progress. At Spark Therapeutics, we are excited to be on the forefront of helping educate the public and the IRD community about this evolving field of research!

Common Questions
Some commonly asked questions we receive about the field of gene therapy research include:

  • What are the goals of gene therapy research?
  • How is gene therapy administered in clinical trials?
  • What types of diseases are being studied using investigational gene therapy?
“Hearing from you is the only way we know what questions you have. Keep the feedback coming by signing up on aSharedVision.”

We are pleased to help provide answers to these questions, and many more, with a fully narrated, three-minute video explaining how science is leveraging the body’s existing genetic code to advance the field of gene therapy research.

Hearing from you is the only way we know what questions you have. Keep the feedback coming by signing up on aSharedVision.


Gene Therapy Research: Then and Now
The idea of gene therapy is not new. In fact, scientists have been investigating and evolving it for more than 50 years; and to date, more than 2300 gene therapy clinical trials are planned, ongoing, or have been completed.

Gene therapy research, some in very early stages, is focusing on many diseases that are partly or fully caused by genetic mutations, such as blood clotting disorders—for example, hemophilia—cardiovascular disease, neurodegenerative disorders—such as Parkinson’s disease—vision disorders, and musculoskeletal disorders. The potential of gene therapy research brings hope to millions of people living with currently untreatable diseases.

Understanding Genetic Disease
Before you can understand the intricacies of where gene therapy research is, it’s important to know what a gene is. The human body is composed of trillions of cells. Within a cell, there is a nucleus, which contains chromosomes. Chromosomes are made up of DNA, which is the body’s hereditary material.

Genes are segments of DNA. Genes contain instructions for making proteins, which are molecules that build, regulate, and maintain the body. Sometimes there’s a change in the DNA’s gene sequence. This is called a mutation, and can cause a necessary protein to not work properly, or to be missing.

A mutation can be a substitution, deletion or duplication. Some mutations are harmless, but others can result in a genetic disease. Simply put, gene therapy is an investigational approach, with the goal of treating or possibly preventing a genetic disease.

Exploring the potential of gene therapy
One goal of gene therapy research is to determine whether a new or functional gene can be used to restore the function of or inactivate a mutated gene. One way for this to happen is to deliver a gene into a cell. To do so, a transporter, known as a vector, is typically used. A vector can be made from an altered virus, which means that before the virus is used, its viral genes are removed.

Vectors can be given intravenously, which means they are administered into a vein, or injected into a specific tissue in the body. There are three commonly used vectors. One of them, adeno-associated virus, or AAV, is not known to cause disease, which is why it may be used as a viral vector to transport a gene into the cell.

In this example, the gene delivered into the cell does not integrate into its DNA and cannot be passed down to new cells. Once the cell has received the functional gene, it should address the mutation by producing the necessary protein, or stopping production of the harmful protein.

At Spark Therapeutics, we are using AAV vectors to advance research programs against strategically selected target tissues—for example, the retina, liver, and central nervous system—which is all a part of our mission to challenge the inevitability of genetic disease.

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