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About Gene Therapy: A Potential Treatment for Genetic Diseases

Posted: May 16, 2019 at 9:54 pm

Gene Therapy Research: Then and Now

The idea of gene therapy is not new. In fact, scientist 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 Parkinsons 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 what gene therapy research is, its important to know what a gene is. The human body is composed of trillions of cells. Within a cell, theres a nucleus, which contains chromosomes. Chromosomes are made up of DNA, which is the bodys hereditary material. Genes are segments of DNA. Genes contain instructions for making proteins, which are molecules that build, regulate, and maintain the body.

Sometimes theres a change in a genes DNA 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 part of our mission to challenge the inevitability of genetic disease.

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About Gene Therapy: A Potential Treatment for Genetic Diseases

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