Session B1
Paper #46
Disclaimer—This paper partially fulfills a writing requirement for first year (freshman) engineering students at the University
of Pittsburgh Swanson School of Engineering. This paper is a student, not a professional, paper. This paper is based on publicly
available information and may not provide complete analyses of all relevant data. If this paper is used for any purpose other
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CRISPR-CAS9: CURING GENETIC DISEASE
Madison Henkelman, [email protected], Mena Lora 3:00, Jocelyn Baker, [email protected], Mahboobin 4:00
Abstract—Genes play a vital role in our body's functioning,
but on occasion a gene mutation occurs in our DNA leading
to major health issues or incurable diseases such as Sickle
Cell Anemia and Cystic Fibrosis. Researchers and engineers
worldwide are currently making rapid progress in developing
medical devices and procedures that have the potential to
effectively treat and cure genetic disease. An exciting example
of this progress is the technology CRISPR-Cas 9. 
CRISPR-Cas9 is a portion of bacterial DNA, referred
to as a locus, co-discovered in 2012 by Jennifer Doudna and
Emmanuelle Charpentier. Cas9 can be programmed to
break strands of DNA at specific areas in a sequence in
order to prompt a restructuring of the strand at the site or
to remove desired sections of a DNA sequence. Cas9 is
being experimentally used in labs worldwide as a tool in the
search for a cure to genetic disease. While CRISPR-Cas9 is
a promising tool with great potential, it is a topic of much
ethical debate worldwide. Some points of contention in Cas9
ethical debates are acceptable uses of Cas9 and the true
discoverer of CRISPR-Cas9. Researchers are also currently
working to overcome some of Cas9's limitations including
the inability to target specific cells in the body for Cas9
delivery and the inability to control genome repair after
Cas9 breaks a DNA strand at the desired area.
Key Words—CRISPR-Cas9, Genetic Disease, Genome
Engineering, Gene Mutation, Progressive Medicine
MODERN MEDICINE’S INCURABLE
PLAGUE
In our developing society today, it is incredibly common
to hear about medical breakthroughs made possible by a
revolutionary technology or procedure. Such advances have
greatly improved prognosis of patients diagnosed with
ailments such as cancer and heart disease. However, the
millions of people affected by genetic disease worldwide have
unfortunately not received any such relief since significant
progress on treating and curing ailments caused by errors in
gene sequences has yet to be made. Gene mutation, which is
responsible for a wide range of diseases including Sickle Cell
Anemia, Cystic Fibrosis and even cancer, affects 3-4% infants
University of Pittsburgh Swanson School of Engineering
03.03.2017
born each year and accounts for 10% of all adult
hospitalizations [1] [2] [3] [4]. While modern medicine can
revel in making tremendous progress in treating various other
diseases which plague our society, the current treatment plan
for genetic disease is often heavily medicating patients based
on symptoms to make their lives as functional and extended
as possible. Although the science and medical community has
yet to make a significant breakthrough in improving the
treatment of or finding a cure to genetic disease, researchers
and engineers worldwide are currently making rapid progress
in discovering and developing medical devices and procedures
that will provide such a breakthrough. An exciting example of
this progress is the technology CRISPR-Cas 9.
CRISPR-Cas9 is a section—or locus—of bacterial DNA,
co-discovered in 2012 by Jennifer Doudna and Emmanuelle
Charpentier. Cas9 can be programmed to break strands of
DNA at specific areas in a genetic sequence in order to prompt
a repair of the strand at the desired site. Currently CRISPRCas9 is being used to develop new treatments for a variety of
diseases and conditions caused by gene mutation and also
being in other research fields including agriculture and
material sciences [5]. While CRISPR-Cas9 is a tool with great
potential to change modern medicine and improve many lives
by treating genetic disease, it is a topic of much ethical debate
worldwide and researchers are currently facing challenges that
are coming along with Cas9's use in medical treatment. Some
of these challenges include perfecting the ability to target
specific cells in the body in order to deliver Cas9 effectively
and controlling genome splicing errors Cas9 may have when
applied in-vivo to treat patients [5]. Cas9 is a shockingly
versatile technique, however the discussion of Cas9’s
applications in this paper will be limited to the technique’s
applications in medical research. CRISPR-Cas9 is an exciting
and revolutionary technology progressing rapidly towards
becoming the dominant technique utilized in medical
treatment and prevention of many diseases, thereby improve
quality of life not only for individuals in our generation, but
many generations to come as well. However, how the
limitations of Cas9 and the ethically hostile environment
research must be conducted in threaten Cas9’s prospective
impact and sustainability in society will also be explored,
since the future of CRISPR-Cas9’s clinical application is
currently uncertain as researchers have yet to produce safe and
reliable treatments.
Madison Henkelman
Jocelyn Baker
provide huge incentives for researchers and engineers worldwide to produce reliable and versatile treatments utilizing
CRISPR-Cas9. The specific mechanisms of the technology
and details of Cas9’s use in research is focused on in the
following section.
GENES AND GENETIC DISEASE
The human body is made up of millions of cells, each
containing a large amount of DNA which is responsible for
the production of proteins in our bodies. Specific sub-lengths
of DNA are referred to as genes. Genes assist in protein
production within a cell by determining the orders of amino
acids needed to compose various proteins our bodies rely on.
The role of genes in the production of proteins is vital to the
survival of our cells and therefore our survival as humans.
However, the intricate protein production process can be
disturbed when gene mutation occurs and certain genes
become unable to carry out their function. Gene mutations can
be inherited or developed within the body when errors in cell
division go unchecked by our body's immune system. When it
comes to inherited gene errors, it is estimated that every
person has 5 to 10 mutations in their body, but since most
mutations that cause serious disease are dormant, these
mutations do not affect our health when only one faulty copy
in inherited from a parent. However, some singly inherited
mutations do cause serious health issues such as Huntington's
disease and Sickle Cell Anemia [4].
Cancer is another disease that plagues our society as a
whole and is often caused by gene mutation along with
environmental factors. A cancerous tumor results from
abnormally paced and uncontrolled cellular growth stemming
from a single cell or small number of cells that develop a
genetic mutation rendering them unresponsive to the bodies
growth regulating signals and mechanisms. This gene
mutation is spread rapidly in areas of the body as the cells
divide and eventually metastasize [6]. Finally, faulty genes are
also a cause of various disorders that develop in-utero due to
missing sections of DNA such as Down Syndrome. These
developed gene mutations along with inherited gene mutations
affect the physical and mental development of children from
birth and throughout their whole lives. It is the goal of genome
engineers and researchers worldwide currently to develop
reliable treatments and therefore cures for the mentioned gene
mutations and the disease that result from them.
More than 250 million people worldwide are affected by
a genetic mutation and health problems related to gene errors
[7]. This statistic only begins to highlight the scope of impact
treatments using Cas9 could have on society, since procedures
to treat cancer, viral infections and psychiatric disorders are
also being researched. The improvement of quality of life of
millions of patients having from genetic error related health
problems would be just as revolutionary as if not more so than,
for example, the discovery of penicillin. Successful and
reliable treatments using Cas9 would not only have an
enormous range of impact in our society today, but also
continue to impact society in the future since genetic disease
will continue to develop both in-utero or later in life for people
of future generations. The predicted scope of impact and
sustainability of CRISPR-Cas9 treatments in society both
CRISPR-CAS9
As described, CRISPR-Cas9 is a vital tool utilized in
worldwide research aiming to develop treatments and cures
for diseases caused by genetic mutation. Cas9's ability to be
reprogrammed with ease and efficiency has caused costs of
genome engineering practices and genetic disease research to
plummet, leading Cas9 to practically be the sole technique
used for gene splicing in labs worldwide [7]. While CRISPRCas9 has helped genetic disease research progress extensively,
the process of splicing genes with Cas9 is still flawed in many
ways that hinder researchers from developing a reliable
treatment or cure for genetic diseases. Researchers are
currently working to overcome Cas9's limitations and produce
effective and efficient therapies for a large number of ailments
including not only genetically inherited diseases and diseases
caused by in-utero gene mutation but also cancer, viral
infections and psychiatric disorders. In the following
subsections, the gene splicing mechanisms of CRISPR-Cas9
will be explained followed by how these mechanisms are
being used and will be used in the future to fight many diseases
which plague our society.
Mechanisms
CRISPR Cas9 was first discovered in bacteria playing
the role of the immune system [8]. Cas9’s system of using the
infector’s viral DNA to locate injected genetic material within
the host DNA provided researchers the opportunity to adapt
this mechanism for research and medical opportunities.
Compared to other discovered biological engineering systems
like ZFNs and TALENS, CRISPR only requires
reprogramming the targeting system of Cas9 instead of
adapting the proteins of the targeted DNA site [7]. This
advantage has made Cas9 a popular tool for researchers to
target the genomes of different organisms.
Today, the engineered CRISPR Cas9 contains three parts
[8]. The first part is the targeted DNA’s complementary RNA
strand. Researchers can attach specific sections of a genome
to target that section of DNA in the organism. This RNA
strand is usually 20 nucleotides long and unique to the gene
targeted [8]. The second part is a small section of Cas9
genome, known as CRISPR RNAs or crRNAs. The crRNA
guides the nuclease activity upon attachment to the targeted
DNA [8]. The third part is the trans-activating crRNA, or
tracrRNA. This particular type of RNA does not code for
anything within the genome, but helps aid the targeting system
of Cas9. Cas9 is inserted into the cell, and upon entering the
nucleus, tries to attach itself to different strands until it finds
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the targeted strand. The PAM (protospacer-adjacent motif) is
thought to transition between the binding of Cas9 to the DNA,
and the cleaving of the strand [8]. At the matching site of
DNA, Cas9 cleaves the strand, and following the binding of
the PAM, two nucleases, RuvC and HNH, activate, breaking
apart the strand [8]. This creates a space for researchers to
affect the genome [7]. This method of targeting specific DNA
strands and removing bases can be used in two different
techniques.
Generally, transcription factors are different molecules that
bind to the start of a gene- the promoter region- that then
encodes the gene to start transcription. These transcription
factors are commonly affected by environmental stimuli like
stress and disease; for example, cancer can cause the
transcription factors stopping tumor growth to not bind, thus
allowing cancer to spread [11]. Again, researchers have to
observe how silencing a transcription factor will affect the
organism in the long run as the absence of a required protein
or regulation of an important biological factor can severely
impact humans. Scientists are using these techniques and more
to revolutionize the era of genetic engineering to determine the
origins of genetic diseases within the human genome, and to
test cures of illnesses that have plagued society for decades.
FIGURE 2 [6]
The mechanism of CRISPR Cas9 used to target and
cleave specific DNA strands
The first technique uses Cas9 to directly target faulty
genes. After cleaving the DNA strand, researchers can either
disrupt the function of the gene through mutations, thereby
silencing the incorrect protein, or replace the incorrect gene
with a proper version. FIGURE 2 shows the two solutions
after direct targeting. In the former’s case, researchers have to
observe how silencing the gene affects the organism. Cas9
silences the gene by introducing a mutation at the site of the
gene; an insertion or deletion mutation will shift the threenucleotide arrangement of a codon of a genome, and thus
changes the amino acid that is produced from the codon.
Amino acid production has evolved to be redundant to prevent
a single base mutation from greatly affecting the function of
an organism, but in some cases, a wrong amino acid will
change the bonding of the protein and disrupt the function.
Researchers use this disruption to silence the gene and its
function, and monitor the organism for changes in the
physiology. In the case of replacing the gene with the proper
version, researchers completely cleave the faulty gene away
from the DNA strand, allowing it to dissolve in the cytoplasm
of the nucleus. The next challenge is the method used to
transport and correctly insert the proper gene; this will be
discussed in the limitations section.
The second technique uses Cas9 to target transcription
factors, thus altering the productivity of multiple genes and
affecting more of the organism as a whole. For multifactorial
diseases like Alzheimer’s that have been linked to multiple
genes, targeting the transcription factor gene could be more
effective at curing the patient. As a whole, transcription
factors have separated eukaryotic organisms from prokaryotes
by allowing the same relative number of genes but more
control over turning genes on and off [10]. In humans, there
are approximately 3,000 transcription genes—about one per
ten—which allow for different combinations of genes [10].
FIGURE 2 [9]
Direct targeting to disrupt function or replace genes
Uses and Limitations
Cas9 is used most commonly in research labs worldwide
in two different ways. Firstly, Cas9 is being used to genetically
edit cell cultures being used to model various diseases with
incredible accuracy. This method assists research aimed at
improving treatments for many diseases by allowing
researchers to create cellular models that simulate ailing
human body systems as opposed to relying on animal models
to hint at how experimental drugs and therapies will affect
living organisms and the disease or condition they are
researching [8]. This method is obviously flawed since a rat's
or another animal's body systems are not as complex as a
human's and it is common for unforeseen and possibly
detrimental complications to surface when an experimental
drug advances to clinical trials involving humans. By testing
their treatments and drugs on models genetically modified
using Cas9, researchers can better predict how effective their
treatments are and how they will affect actual human systems
before they are given to patients in clinical testing. This
contribution of Cas9 to treatment and drug research greatly
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improves the safety of the development process while also
speeding up the process by lowering the risk of unforeseen
effects surfacing during clinical testing which would need to
be addressed back in a research laboratory. Before the
introduction of Cas9, more complicated and expensive
techniques were used to genetically modify cell models.
CRISPR-Cas9 is now the dominant technique to use in drug
research labs for creating accurate models and proves both
easy to use and cost efficient. The incredible improvement to
lab procedures Cas9 has to drug research facilities worldwide
ensures the techniques sustained use in drug research in the
coming future.
The second way Cas9 is utilized in research is in the
search for a cure to various diseases. By experimentally
utilizing Cas9 in-vivo to splice genes at areas where an error
occurs in the DNA sequence, researchers aim to cause the
strand to repair itself and effectively eliminate the gene
mutation causing health issues. In this way, researchers are
coming ever closer to treating genetic mutations effectively
and curing genetic disease along with various other ailments
including viral infections, cancer and psychiatric disorders.
The impact of Cas9 as a treatment to cure diseases caused by
Cas9 is incredibly large in scope and sustainable in the
medical field even as technology progresses due to the ease
and low cost characteristic to the technology.
However, CRISPR-Cas9 has its limitations that leave
researchers with various hurdles to overcome in order to
produce a reliable treatment for the diseases mentioned above.
The biggest challenge hindering the development of reliable
treatments is delivering Cas9 to cells affected by gene
mutation efficiently and effectively. The desired delivery
system would need to protect the CRISPR-Cas9 locus from
the body's immune system while also targeting specific cells
containing genome errors in some treatments or delivering the
locus to every cell in the body for other treatments [8].
Currently the desired method of gene and loci transfer
involves using viral vectors since the vectors have a limited
immune response in-vivo. This ideal transfer system is unable
to be used reliably in delivering Cas9 to cells in-vivo since the
locus' length makes it difficult to transcribe into the viral
vector [10]. Another pressing issue concerning Cas9's use in
treating genetic disease is the fact that researchers are
currently unable to report on Cas9's rate of error. Rate of error
in this case refers to how often the locus splices a gene at an
unprogrammed and undesired spot in a cell's DNA sequence.
Due to the lack of an effective delivery system for Cas9,
researchers have no way of knowing how often Cas9 will
incorrectly splice genes in-vivo and if these errors will result
in any side effects for patients receiving a treatment utilizing
CRISPR-Cas9 or how detrimental these effects could be [8].
The limitations of Cas9 discussed in this subsection
jeopardize the prospects of the technology’s revolutionary and
sustained medical impact on our society becoming a reality.
Cas9 is not the only method being utilized in research towards
groundbreaking medical procedures aimed at treating genetic
disease, cancer and various other diseases. While Cas9 is a
very versatile technique being used in many different fields of
research, there are obviously many hurdles to be overcome
using CRISPR-Cas9 and progress on other treatment options
is continuing to move forward at a feverish pace. These
limitations and particularly the uncertainty of Cas9’s error
rates mentioned lastly along with the ongoing debates
surrounding research involving Cas9 put the prospect of
Cas9’s actual application in medicine greatly at risk. The
future of Cas9 is discussed further in the following section.
Future of Cas9
Researchers and engineers are working daily on
overcoming the limitations of Cas9 discussed above, in hopes
of soon developing reliable and revolutionary treatments
utilizing Cas9. While the ethics of embryonic genome editing
are highly debated at the moment (this debate will be
addressed in the following ethics section), the practice of
preventative and therapeutic editing is currently being
researched with prospective positive effects on the overall
health of our populations. Such edits performed in-utero could
greatly decrease or eliminate the occurrence of disorders and
genetic diseases among our population such as Down
Syndrome and Huntington's disease that affect children from
before birth until death and currently do not have a cure.
Current published research involving embryonic genome
editing using CRISPR-Cas9 has concluded that the procedure
is not developed enough to be performed cost efficiently or
safely. Returning to the drug delivery system dilemma facing
researchers, for preventative embryonic gene editing to
accomplish the beneficial purposes researchers are aiming for,
an effective and reliably safe delivery system must be
developed in order to eliminate risk factors for both mothers
and their unborn children. In addition, progress must also be
made in safely diagnosing genetic diseases in-utero in order
for genetic correction practices to become common medical
procedures and positively affect the health of the world’s
population [10].
Despite limitations, research labs around the world have
begun making progress on medical issues which plague our
society. For example, promising results have already been
observed in multiple research labs studying the technique of
using Cas9 to produce anti-HPV effects in lab rats [11]. While
these findings are very promising, as discussed above, there is
still much progress to be made before Cas9 can deliver the
cures and therapies it has been projected to deliver for diseases
caused by genetic mutation. Stretching past inherited genetic
diseases and disorders caused by in-utero genome mutation, in
order for Cas9 to become a valuable therapy for diseases such
as cancer, diabetes and psychiatric disorders, the science and
medical communities must expand and concrete their
understanding of the genetic causes of these ailments [10].
While Cas9's current limitations are recognized and currently
being addressed, researchers, engineers and medical
professionals alike have high expectations for Cas9's future
contributions to the medical field and society as whole.
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many challenges such as issues of drug delivery and unknown
error rate as mentioned before, it is this therapy that has the
potential to cure thousands of people suffering from many
diseases. Currently, the prospects of somatic genome editing
are in better favor and somatic therapies are closer to medical
application than germline editing, but as our science and
medical communities advance ever more quickly, the actual
applications of both type are fast approaching. The science and
medical community has voiced many times a cry for a united
establishment of guidelines to decide the acceptable uses of
Cas9 in research and possible medical application.
Particularly, doctors, researchers and engineers alike are
calling for a clear cut regulatory definition between
enhancement and therapeutic editing [11].
It is commonly recognized that therapeutic genome
editing is defined as a procedure that would fix genetic errors
and mutations that would be detrimental to health and
survival. In comparison, enhancement engineering would be
performed on an individual unaffected by any health
threatening DNA mutations for the sole purpose of achieving
a desired cosmetic or physical improvement. These genetic
enhancements could include a parent picking the hair or eye
color, height or even athletic ability their unborn child would
have. Another concern of some professionals in the science,
medical and other academic communities is the possibility of
using genetic enhancement to create "superhumans" with
attributes such as abnormal strength and/or agility to be used
to personal or militaristic gains and possibly pose a threat to
the safety of society, While this idea may seem a bit sci-fi at
the moment, the incredible progress toward futuristic
treatments and procedures being made by the science,
engineering and medical communities must be reiterated.
The rapid pace of progress using Cas9 and scope of
possible therapies that could be produced, along with the lack
of overarching regulatory guidelines as of yet has been raising
concerns among scholarly and public communities alike. The
lack of overarching regulatory guidelines is currently not only
hindering beneficial research by bringing unwanted attention
to any use of CRISPR-Cas9 in labs but also leaving the ability
to work on developing possible harmful applications of Cas9
unregulated. While in the first consequence hinders
procedures possibly resulting in the cure to many different
diseases, the second consequence paradoxically is allowing
researchers in some parts of the world to experiment without
limitation or consequence, no matter their intentions.
CRISPR-Cas9 has the possibility to have incredibly beneficial
impacts on society, but also the possibility to be exploited in
cosmetic procedures or even in ways that may harm others or
society as a whole. Cas9 has the potential to not only be a
revolutionary technique in medicine, but also as a possible
weapon. As research and progress continues rapidly, all of
these possibilities are fast approaching reality and without
proper regulation, the results could be detrimental to society.
ETHICS
CRISPR-Cas9's futuristic contributions to medicine and
society are not only hindered by technological limitations.
Currently, certain types of research using Cas9 are limited due
to the level of ethical debate surrounding the technology and
some of its possible uses. For example, ethical acceptability of
embryonic genome editing is highly debated among the
science and medical communities with some members voicing
safety concerns and religious standings while other members
highlight the revolutionary procedures such research could
produce and the benefits they could have our society.
Acceptable uses of Cas9 is another ethical point of contention
in the science and medical communities. Some critics warn of
misusing Cas9 to produce "designer babies" or even
superhumans that can be exploited for personal or even
militaristic reasons and used to do harm on others and/or
society. A less far-fetched concern is the unknown effects
passing on genetically modified DNA sequences can have on
the children of an individual who benefited from a therapy or
medical treatment using Cas9.
Research using Cas9 and similar techniques was also
limited until lately due to a prolonged legal battle and quite
public debate over who CRISPR-Cas9's true discoverers are
and which academic institution should be credited as the
birthplace of the gene-editing technique. Many researchers
and figures in medical, engineering and government
communities have called for an overarching set of regulations
to be established and upheld to ensure the proper and safe use
of CRISPR-Cas9 in research and possible treatment and to
allow research to progress under less restraint and often
unwanted attention than it does now.
Guidelines
A core component of the ethical Cas9 debates is the
distinction between somatic and germline DNA editing and
how strictly these types of genome editing should be
regulated. Germline genetic editing takes place in-utero and
the edits that are performed are passed on to the children of
the individual whose DNA is edited. Somatic genome editing,
in contrast, would theoretically take place in-vivo to correct
genetic mutations and the edits would not be passed to future
generations in that individual’s bloodline [10]. The contention
around Cas9 is particularly centered on the idea of germline
editing procedures for a variety of reasons. Safety of mother
and fetus during research and early application is a huge
concern for figures in the medical and science fields as well as
to what extent passing on edited DNA can have on future
generations. The large extent of uncertainty surrounding
somatic genome editing raises many concerns, much outcry
and also bad publicity for gene editing techniques overall,
despite the fact that somatic gene editing is a very different
scenario. While somatic genome editing is currently facing
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on animals to future clinical trials on humans. Doudna’s and
Charpentier’s discovery of CRISPR Cas9 has shown that there
is a possibility that genetic diseases that have plagued
humanity could become a thing of the past. The medical
therapies and treatments being worked towards currently are
predicted to make curing a diagnosis of genetic disease almost
as simple as curing the common cold. While Cas9 could
revolutionize treatment of genetic disease, cancer, psychiatric
disorders and viral infections, there is no way to rid our
populations of all these ailments, since many of them are
caused by developed genetic errors in the body, not
transmittable diseases which could be stopped entirely from
spreading. This fact highlights the sustainability of therapies
utilizing Cas9, since genetic diseases and ailments related to
gene error will need to be treated in populations of the future
and in preventative procedures performed in-utero to
significantly improve the health and development of babies
affected by gene error. CRISPR-Cas9 also has many
applications beyond medicine including genetic modification
of crops and livestock aimed at increasing yield and quality of
agricultural products. The versatility of this technology is
shocking, but the reality of procedures utilizing Cas9
becoming common and sustained medical practices is
currently uncertain.
This technology has incredible potential to impact
society on a revolutionary and sustained scale when reliable
and safe applications are produced. However, while
researchers investigate these reliable applications and uses of
Cas9 in laboratories, the ethical arguments of a true discoverer
and the acceptable future uses of such a revolutionary
technology has unfolded in court rooms and scientific debates
alike. While Cas9 has a prospective lasting and largescale
impact on both our society and societies of the future, it’s
sustainability is being threatened and it’s development
hindered by the technologies limitations and the ethically
hostile environment research must be conducted in. By
overcoming beforementioned limitations, someday we could
rid the world of Huntington’s and cancer, but at what point is
Cas9 being used for the wrong reasons? Science evolves;
engineering builds the future. Will Cas9 be updated and
improved? Or will it fall behind newly discovered biological
mechanisms that more efficiently do the same job? These are
questions to contemplate for now, but who’s answer are fast
approaching.
Where Credit is Due
The second large point of contention in CRISPR-Cas9
debates is over which research laboratory, Jennifer Doudna
and Emmanuelle Charpentier's of the University of California
or Zheng Feng's of the Broad Institute in Cambridge
Massachusetts, should have legal rights over CRISPR-Cas9
usage in labs worldwide. Broad Institute in Cambridge Mass
very recently won a patent court case that allows them to retain
rights to Cas9 and dozens of patents it already claimed related
to Cas9. This is a huge blow to University of California that
has claimed legal rights over all types of CRISPR usage in
research and future application. Currently companies and labs
looking to use Cas9 need a license from both the Broad
Institute and the University of California to employ the
technique in their research. This legal dilemma has hundreds
of millions of dollars tied up in the dispute over rightful legal
claims, since the rightful discoverer would profit from Cas9's
use in research labs as well as from any future therapies
developed using Cas9. This messy situation is centered on to
what extent Doudna and Charpentier should be credited with
Cas9's recent revolutionary usage.
In 2012, Doudna and Charpentier first showed that the
process of using CRISPR to edit DNA was possible by
demonstrating their research with chemicals in test tubes. This
demonstration prompted a frantic race to expand CRISPR's
use in research and therapy development. A few months after
the original discovery, Zheng Feng at the Broad Institute
successfully performed the gene editing in a cell and the
institution received several patents following this
development. Doudna and Charpentier then publicly claimed
their lab should be credited with the technique of gene editing
in cells, despite the fact that they weren't the first to
successfully apply it, since their original discovery prompted
the research that developed the application. In February 2017,
a panel of three judges ruled that Doudna and Charpentier's
demonstration using chemicals did not provide enough
promise of successful use within cells for them to claim legal
rights over the procedure performed at Broad Institute, despite
the fact that their initial finding prompted the successful usage
within a cell in Massachusetts [13]. While Doudna and
Charpentier do have a patent on the CRISPR technology, that
patent is seen to not speculate on the application of Cas9 on
human cells, leading many to believe Zheng was the first to
show this procedure was possible [11]. This debate is very
much alive, since the University of California is currently
contemplating an appeal the recent patent court decision.
Doudna was interviewed on the day of the recent decision and
claimed, "They have a patent on green tennis balls, we will
have a patent on all tennis balls" [13].
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CURING GENETIC DISEASE
In the past few decades, genetic engineering has become
a reality, growing from the application on bacteria to research
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[3] "Inherent Disorders and Birth Defects." Net Wellness
Consumer Health Information. Accessed 1.4.17.
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ADDITIONAL SOURCES
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ACKNOWLEDGEMENTS
We’d like to acknowledge the help of Renee Prymus,
Julianne McAdoo and Michelle Riffitts for guiding our paper
into a professional piece. Madison would like to thank her
parents and family for supporting her through her endeavors
in engineering. Jocelyn would like to thank her family and
particularly her father for showing her the importance of love
and strength in the face of adversity and for continually
encouraging and inspiring her passion for progressive
medicine.
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