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How Scientists Can Genetically Prevent Disease

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How Scientists Can Genetically Prevent Disease
What if scientists could apply gene-editing to humans to edit out diseases? For example, what if they could use this tool to stop a mutated gene responsible for a hereditary disease passed from one generation to the next?

That is exactly what scientists claim they have done with human embryos. This gene-editing technique corrected a mutated gene and could potentially prevent the disease casing gene from being passed on to a person’s offspring.

Scientific Breakthrough Fighting Genetic Diseases

In August 2017, an Oregon Health and Science University team published a report in the Nature journal outlining what has been touted as “a major scientific breakthrough”. The paper describes the team’s research and subsequent success as the first in the US. The scientists claim that by using a gene-editing tool, known as CRISPR-Cas9, they were able to “jump-start” a gene correction during the early embryonic process.

The scientists conducted their research using “clinical-quality human eggs”. Once the correction is introduced, the human embryos took over and completed the changes necessary to correct the mutation of the disease responsible gene(s).

Fox News reports that the team of scientists targeted the, “mutation in nuclear DNA that causes hypertrophic cardiomyopathy”. This is a disease you may have heard about being responsible for the sudden heart failure resulting in cardiac death of an otherwise healthy young athlete. While it is a common disease, it often goes undiagnosed and untreated, resulting in tragic unexpected deaths. In fact, Fox News reports that it is so common that 1 in 500 people has the disease (2).

The scientists targeted this disease in their research. Using a “gene-correcting enzyme” to counter the donor sperm that carried the hypertrophic cardiomyopathy mutated genes, they injected the embryos with both the enzyme and the mutated genes. The embryos self-corrected the mutated gene and the disease was no longer present.

How the Embryos Self-Corrected

Fox News describes how the CRISPR-Cas9 technology worked in this research. The CRISPR-Cas9 was programmed to locate the mutated DNA and cut it out. When a CRISPR tool is used to “cut” the DNA (like a pair of molecular scissors), the DNA ultimately reconnects the ends of the snipped section and proceeds to refill the missing parts. In an effort to counter this repair, the scientists typically introduce a repair package designed to replace the cut-out DNA.

However, the Oregon team tried a different approach. Instead of introducing a repair package, they allowed the embryos to supply their own repair package. They cut out the DNA and the growing embryos fixed the cut (missing) DNA on its own.

How did the embryos manage to do this? Easy, they each had a spare gene since the human embryo receives “two copies of each gene”, inheriting one from each parent. The DNA had been cut and was now missing so the embryos simply copied the other DNA to fill in the missing part. The other DNA didn’t have the mutated gene and the result was a healthy gene.

How Will this Procedure Be Used?

According to Fox News, the scientists believe this DNA altering tool offers hope to families with specific genetic diseases. Theoretically, an embryo with such a genetic mutation could be treated in utero to eradicate the gene not just for the baby, but all future family generations. With this gene altered, it could eventually mean that treating an entire generation could literally eradicate the disease so it would no longer be found in humans.

The science is still a long way from this ultimate end result.

According to the senior author of the report, Dr. Shoukhrat Mitalipov, director of OHSU’s Center for Embryonic Cell and Gene Therapy, the repaired gene would be passed along the “family’s lineage” instead of the mutated gene that caused the disease.

This technique is promising to those suffering from genetic diseases, but Fox News cautions that China’s attempts at embryo gene-editing haven’t always been successful. That’s because not all cells can be repaired due to mosaicism.

This is when there are “two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.” If these are present in someone with a genetic disease, then it’s difficult to prevent the disease from being passed on to the next generation (3).

If a small group of cells are mutated and if the embryo also has a genetic disease present, then gene-editing isn’t usually successful. That’s because these cells might not be identified and can still be passed on to the person’s offspring and subsequently, the genetic disease will also be passed on (4).

The Future of Gene-Editing in the Fight Against Disease

In the team’s paper published by Nature, three major instances for gene-editing are outlined for biomedicine. These included:

  • “Basic research on human disease and its treatment.
  • Clinical applications to prevent disease or disability in non-productive cells.
  • Clinical applications to prevent disease or disability in productive cells.”

There are clearly several hurdles facing scientists when it comes to gene-editing. If those hurdles can be removed, then in the future it might be possible to eradicate hereditary diseases.

References & Image Credits:

(2) Fox News
(3) Wikipedia Mosaic Genetics
(4) Intro to Chromosomes


Originally published on

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