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Ivana De Domenico

Dr. Ivana De Domenico and Her Featured Writings

Working Out The Issues With CRISPR

August 16, 2018 by Ivana De Domenico

CRISPR is an enzyme developed by scientists in an effort to remove potentially harmful genetic traits and paste the remaining sequences together. During the 1980s, researchers discovered that bacteria protect themselves by cutting and pasting themselves. When bacteria identify viral RNA molecules within its DNA, the Cas enzyme grabs the anomaly and divides it in two to prevent reproduction. Scientists called the act clustered regularly interspaced short palindromic repeats or CRISPR for short. However, as researchers attempted to replicate the process in the laboratory, they uncovered problems.

The CRISPR discovery gave researchers hope that they had uncovered an innovative means of editing DNA. If scientists could use the technique, they dreamed that the abnormal DNA sequences that cause a number of disease processes might be effectively removed to prevent their development. However, as research and experimentation continued, CRISPR caused gaps in the cell’s genome. Scientists from the Wellcome Sanger Institute in Great Britain published the finding in an issue of “Nature Biotechnology” explaining that potential drawbacks of CRISPR have not been formally noted.

In a laboratory setting, researchers used the Cas-9 enzyme to remove a specific gene in the embryonic stem cells of a mouse. However, the process did not go as predicted. The group soon found that large sequences of DNA were missing. If the scientists were using traditional methods of assessing the DNA sequences, they may not have discovered the error. The billions of altered cells could have devastating effects that might include making them susceptible to cancer development.

The study showed that researchers need to assess larger strands of DNA to determine why CRISPR did not perform as hoped. Instead of cutting one strand of the gene, the team cut both strands of the double helix, which was one of the reasons for the error. They also need to find ways to prevent the cellular DNA from attempting to repair itself, which led to the problem.

Representatives of companies using CRISPR reported that their scientists had not encountered the problem with the techniques they used. As such, the study did not make an impact on their research. However, the published findings caused an immediate and substantial financial loss for several CRISPR companies.

The drawbacks did not dismay the Wellcome Sanger scientists. They explain that new discoveries are not without problems. The group plans to continue working on the project and making improvements so that one day the technology might be a successful medical tool.

How Gene Therapy Is Becoming Mainstream For Rare Disease Treatment

June 22, 2018 by Ivana De Domenico

Within the past few decades, as we have begun to unlock the way in which human beings have been engineered through our DNA, researchers have also started to explore how we can work with genetic solutions to cure what ails us. Up until this point, those with rare diseases often had little recourse. But recent research has put us on the precipice of a new and exciting time—a time when people may be cured by some editing of their own genes.

 

Offering Hope for Cystic Fibrosis Sufferers and More

With editing technology becoming more and more advanced with each passing day, patients who suffer from both polygenic and monogenic disorders may now see some hope on the horizon. It seems that even certain cancers and heart diseases will now be addressed through gene therapy. Before, there was nothing that the medical community could do for people who were suffering from these disorders; for most of them, there weren’t even trials that patients could sign up for if they wanted.

 

Viral Vectors Will Make the Difference

Along with gene editing advances, researchers are also extremely bullish on the delivery techniques that will be used to introduce changes to the human body. Right now, they are using lentivirus with stem cells, as well as adeno-associated virus (AAV) as the primary delivery methods. At a recent Boston conference centered around a discussion of rare disorders, many of the nation’s top researchers seemed thrilled that finally progress was being made in this arena. AAV vectors, in particular, hold a lot of promise for many different types of applications with patients, but obviously, a great deal of research will need to be done before the general population will see such treatments being offered.

 

Laying the Groundwork for Progress

Everyone involved with gene therapy agrees that it will take some time. However, there is a huge push from government agencies to make these transformations happen sooner rather than later. Allocating hundreds of millions of dollars towards funding, the National Institutes of Health has proven to be a critical resource during this time of discovery. For-profit medical companies are also getting into the action, as it will undoubtedly become a highly profitable sector in the years to come.

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