Chromosomes, DNA, and genetic disease.

To understand the complexities of gene therapy science, you first need to know how our bodies create genetic anomalies.

 

Understanding genetic disease at its core.

The human body is composed of trillions of cells. Cells are the basic building blocks of all living things. The command center of each cell is called the nucleus, and it contains chromosomes. Chromosomes are made up of DNA—the body’s hereditary material.

Understanding our genes.

This Spark Therapeutics video explains how genes work in the body and what happens when our genes develop a mutation, which can lead to inherited retinal disease (IRD).

“Amazingly, hundreds of genes are required to have effective eyesight. There's a great deal of research going on to try to develop gene therapy for a number of retinal-degenerative disorders.”– Katherine A. High, M.D.President & CSO of Spark Therapeutics and a leading researcher in the field of gene therapy research

Genetic mutations.

Our genes, which are passed from parent to child, contain instructions for making proteins, the large complex molecules that do most of the work in cells. For example, proteins build bones, allow muscles to move, control digestion, and keep your heart beating.

If there is a change in a gene’s DNA sequence, called a mutation, it can cause a necessary protein to not work properly or to be missing. A genetic disorder is a disease that can be caused in whole or in part by a change, or mutation, in a gene that affects the gene's ability to do its job.

The goal of gene therapy research is to determine whether a new gene can be used to replace or inactivate a mutated gene to treat a disease or help the body fight disease.

 

Find the needle. Forget the haystack.

Thanks to the Human Genome Project, researchers can now locate—out of 20,500 genes—those genes responsible for causing some forms of inherited blindness.1

“Retinal gene therapy research shows great potential to, one day, address inherited retinal diseases that currently have no treatment options. It is a very exciting time for patients and families, scientists, and clinicians.”– Daniel C. Chung, D.O.Clinical Ophthalmic Lead at Spark Therapeutics and a pioneer in the field of IRD gene therapy research

Researching genetic mutations that lead to vision loss.

Now that you better understand genetic disease, it’s time to learn how researchers are striving to deliver a healthy copy of a mutated gene into the retina and why genetic testing has become key for those with IRDs. 

References:

  1. All About the Human Genome Project (HGP). (October, 2015). Retrieved January 05, 2016, from http://www.genome.gov/10001772
 
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