As medical research evolves, scientists are delving more into the study of DNA for preventative care — looking for ways to alter genetic code in order to avoid or eliminate genetic diseases.
Institutions from around the world are contributing to this work. The University of Utah is a notable contributor, having made a number of advances in the field and housing award winning researchers. There are high hopes that a new technology called CRISPR (an acronym that stands for clustered regularly interspersed short palindromic repeats), which is studied at the U, is the cure for a variety of genetic diseases, including sickle cell disease (SCD). Despite major breakthroughs, however, this technology has been the subject of a variety of controversies and legal issues.
Scientists like Dana Carroll, a professor of biochemistry at the U and a member of the National Academy of Sciences, have explored methods of editing DNA to limit mutations like SCD. The editing tool in development, CRISPR, is being used to repair defective genes contributing to the disease. Should CRISPR be useful with treating this illness, scientists hope the advancement can be applied to other diseases in the future.
SCD is one of the most common blood disorders in the United States affecting approximately 100,000 Americans. It makes red blood cells collapse from a circle shape into a C or sickle shape due to a gene mutation. The result of this mutation limits the cells’ ability to transport oxygen throughout the body. It results in fatigue, repeated infections and periodic episodes of pain. Treatments have been developed to alleviate the symptoms, but up until now, a cure has remained elusive.
CRISPR uses a natural mechanism in bacteria that functions like a primitive immune system. It allows scientists to break parts of DNA on predetermined points so that they can cut areas of DNA with mutations or viruses and then edit it. When CRISPR senses a virus invading, it can attack and cut up its DNA.
The goal for CRISPR is to become something like an editing software in a Word document. It would hypothetically scan the document, highlight errors and then correct them.
“Genome editing is a little bit like text editing,” Carroll said in a May 2017 interview with The Utah Chronicle. “You place a cursor where you want it and make local changes in the text you’ve written. We can go in and place our cursor and make a break at one site in the DNA — exactly where we want it.”
Carroll’s lab is credited with the development of zinc-fingered nucleases, a predecessor of CRISPR that allows biochemists to target and make breaks in specific DNA sequences.
Scientists are optimistic they may be able to use this technique to address a number of diseases in the not-so-far future — including cancer.
Like many developments in the medical field, CRISPR is not without debate. This technology is often viewed from two perspectives: a focus on editing sperm and egg cells and a focus on editing all other types of cells.
The benefit to editing sperm, egg or germ cells is CRISPR would not only prevent genetic diseases altogether, but would also prevent them from being passed on to future generations. CRISPR could potentially be used to eliminate some diseases from the gene pool altogether. The long-term effects of gene editing, however, remain unclear.
The focus on editing other types of cells has a higher likelihood of being used on patients in the near future. Scientists are currently working to eliminate genetic diseases in mice. Unfortunately, there is a long way to go before these treatments can be safely tested on humans.
Some U students have concerns about CRISPR and its potential effects.
“For every action there is an equal and opposite reaction,” said Georgia Seidel, a sophomore in psychology. “So I have to wonder what effect gene therapy will have in the long term. How will man-made changes evolve in future generations? Does this begin to infringe on the laws of eugenics?”
Researchers believe eugenics is likely not a huge concern, as CRISPR doesn’t involve controlled breeding, just control of the genome. That does not, however, eliminate the fact that this sort of development would mean humans have developed technology to avoid genetic “survival of the fittest.”
Legally, CRISPR researchers only run into problems surrounding intellectual property. Many law professionals, however, have been looking into how to make the technology more accessible to the masses.
Jorge Contreras, a professor at the U’s S.J. Quinney College of Law, has researched legal access to CRISPR. In a paper published in the journal “Science,” he proposed that universities holding CRISPR patents open their licenses to broader segments of the biopharma industry — a change he feels would result in increased discoveries in health and medicine.
“Because the potential for CRISPR as the engine for the creation of life-saving drugs and therapies is potentially compromised by the current licensing model, it should be corrected to improve the potential for enhancing public welfare,” Contreras wrote in his paper.
Contreras and his associate researchers have critiqued the current CRISPR patent and believe it should be revised to be more inclusive. They see the main issue as who owns each part of the technology and who should be able to access it in the future.
The current patent-holders include the University of California Berkeley and the University of Vienna as a unit, and another is held by the Broad Institute, which is Harvard University and the Massachusetts Institute of Technology (MIT). As the patents are worded now, only these institutions can research their respective aspects of the technology. In order for the technology to become successful, Contreras argues, far more researchers will need to study it.
If the ability to research CRISPR is expanded, the U would likely become a larger player in the field.
The U’s first lab to research cellular and molecular biology was opened by Carroll in 1975. At that time, according to Carroll, there was very little research in the field on campus. Over his 43 years with the department of biochemistry in the U’s school of medicine the department has expanded, and it now has 16 labs. He hopes the program will continue to mature.