Eliminating Human Genetic Diseases

Eliminating Human Genetic Diseases
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A recent report gives hope to those living with a genetic disease. Researchers at Stanford University have used a powerful new genetic technique called CRISPR to repair a genetic mutation that causes a devastating disease called sickle cell anemia. This disease is caused by a mutation in the genetic code that our cells use to make hemoglobin. Hemoglobin is the protein that gives our blood its red color and it is responsible for delivering oxygen to all tissues in our body. Without the constant delivery of oxygen our tissues could not function.

Sickle cell disease is a genetic inherited disease. The mutated gene leads to an altered form of hemoglobin called hemoglobin S. The hemoglobin S causes red blood cells to change shape from round disk-shaped cells to crescent or sickle-shaped. The sickle-shaped blood cells cannot pass through smaller blood vessels to deliver oxygen, so tissues become damaged. There are some treatments for sickle cell disease but no cures.

CRISPR is a molecular tool that shows promise for repairing genetic mutations in cells. It was first discovered in bacteria from a salt marsh. In bacteria, it functions as a primitive immune system protecting the bacterium from foreign DNA. CRISPR has been well studied and molecular biologists have harnessed it to alter DNA in bacterial and even human cells. CRISPR can alter the DNA within the genome of a living cell. While scientists have had the ability to alter genes in living cells, the development of CRISPR has put us light years ahead making gene manipulation more efficient and predictable.

In a recent study, scientists at Stanford used CRISPR to remove the DNA sequences in the hemoglobin gene that cause the mutation. Researchers then used a harmless virus to insert the correct gene sequences into the cells.

When genetically repaired mouse cells were re-introduced into mice, scientists found that the genetically repaired stem cells could become a stable population in the bone marrow. This means if you repair the genetic mutation in stems cells destined to become red blood cells, the bone marrow will make normal blood cells for many years and maybe a lifetime.

In experiments with stem cells from patients with sickle cell disease, the scientists could correct up to 50 percent of the defective cells, which then produced normal hemoglobin. Estimates are that if you can repair at least 10 percent of the cells you can eliminate disease symptoms. These studies have been so promising that scientists are scaling up their efforts and preparing to submit their findings to the Food and Drug Administration so they can begin human clinical trials as soon as 2018. If the clinical trials go well, this treatment could eliminate symptoms for sickle cell anemia patients for many years.

The goal of this type of research is to repair human genetic disease. There are many genetic diseases that could be treated using this technology. Imagine a future where many people with genetic disease will have the ability to live out a normal lifespan without the effects of their disease.

Medical Discovery News is hosted by professors Norbert Herzog at Quinnipiac University, and David Niesel of the University of Texas Medical Branch. Learn more at www.medicaldiscoverynews.com.

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