From the Umeå lab to around the world – how genetic scissors are now being used

Emmanuelle Charpentier, former researcher and visiting research fellow at Umeå University. She holds an honorary doctorate from the Faculty of Medicine.

ImageHallbauer&Fioretti

“Crispr crispr”. This was the sound the French researcher Emmanuelle Charpentier heard as she took her first steps in a winter-white Umeå in 2008. She said: “It’s a call. I have to come here and walk on CRISPR.”

And that is what she did. She was offered a position as a group leader at the Laboratory for Molecular Infection Medicine Sweden (MIMS) at Umeå University, and it was with this group that she discovered the final crucial piece of the puzzle to the groundbreaking gene editing tool CRISPR-Cas9, also known as the gene scissors.

Very simply described, gene scissors make it possible to cause specific mutations in DNA, for example to inactivate or replace genes or correct individual letters in the genetic code, much like when we change misspellings in a word processing program. 

How gene scissors work 

CRISPR is an acronym for “clustered regularly interspaced short palindromic repeats” and is a collection of DNA fragments. Cas9 is an enzyme that cuts DNA chains. Watch this educational video to understand more about how it can be used.

After a publication in Science during the summer 2012, interest among genetic researchers exploded and from there developments went quickly. Already in the first half of 2013, CRISPR-Cas9 was used in laboratories around the world to alter genes in everything from bacteria, yeast and green plants to zebrafish, fruit flies, mice, rats and human cells. Later that year, Science noted that there was a “CRISPR frenzy” and by the end of the year, CRISPR-Cas9 was included in the “top ten” lists in both Science and Nature of the most important scientific achievements of the past year. The discovery received several awards and recognitions.

So perhaps it is not surprising that Umeå University began preparing for the annual announcements of Nobel Prize winners. In 2020, the moment finally arrived, with Emmanuelle Charpentier and her collaborator Jennifer A. Doudna at the University of California, Berkeley in the United States, jointly receiving the Nobel Prize in Chemistry for the discovery of CRISPR-Cas9. 

Benefits to society 

MIMS recently summarised advancements in the use of gene scissors with a focus on its benefits to society.

Just a decade after its discovery, individuals suffering from otherwise incurable genetic diseases are beginning to benefit from the use of gene scissors, with the first gene CRISPR therapies now approved and more than 100 currently in clinical trials for a wide range of diseases, from cancer to diabetes and viral infections.

In agriculture and plant biotechnology, the technique is being used to improve crops, including making them resistant to mould, pests and drought. It is also being used to rapidly modify rare crops and wild varieties to improve global food security and reduce poverty.

Many other CRISPR applications are also currently being explored, including for controlling mosquito populations and making mosquitoes unable to transmit diseases, including malaria mosquitoes.

CRISPR has been cited in approximately 80,000 patents, and the CRISPR market is estimated to have been worth USD 3 billion in 2024. This figure is predicted to grow rapidly as new diagnostics and treatments reach the market.

Umeå researchers using gene scissors as tools

Scientists around the world utilise gene scissors in a variety of ways in their work. This naturally includes several researchers at Umeå University.

Barbara Sixt, an associate professor (docent) at the Department of Molecular Biology and research leader at MIMS, is one of these. She and her research group are studying how disease-causing bacteria, particularly the pathogen that causes the sexually transmitted disease chlamydia, can evade the inherent defence mechanisms of human cells.

Barbara Sixt, associate professor at the Department of Molecular Biology and research leader at MIMS.

ImageMattias Pettersson

Gene scissors have resulted in making their work process easier and more versatile and has led them to important discoveries.

“Using gene scissors as a discovery method, we have uncovered an important strategy that allows the chlamydia pathogen to hide from our cells’ defence mechanisms. Our hope is that this new knowledge will enable us to develop better treatments for chlamydia and other diseases.”

Treating familial amyloid polyneuropathy (Skelleftesjukan)

Another example where gene scissors may help cure human suffering is the treatment of familial amyloid polyneuropathy or Skelleftesjukan as it is known in Swedish. A study is currently ongoing at Umeå University using a gene scissors-based drug on patients. The research project is at an early stage, but it looks promising.

“It could be a good treatment for the disease,” says Björn Pilebro, assistant professor combined with clinical employment at the Department of Public Health and Clinical Medicine, who is one of the driving forces behind the study. 

Björn Pilebro, assistant professor combined with clinical employment at the Department of Public Health and Clinical Medicine.

ImageMattias Pettersson

There are already medications for familial amyloid polyneuropathy, but one problem with these is that they are very expensive, costing millions of kronor per patient every year. A new medicine would put competitive pressure on existing alternatives.

It is also hoped that the same technique can be applied to other diseases.

“For several reasons, amyloid polyneuropathy is a very “simple” disease to treat by modulating gene expression. We have used the gene scissor technique to “turn off” a gene. In the near future, similar techniques are likely to be trialled to reduce the risk of more common diseases, such as heart attacks. Theoretically, in the future it will be possible to repair genes where variants lead to disease,” says Pilebro, but he emphasises that this is probably many years in the future.

“It is difficult to predict how quickly this will happen.”

Effective for plant research

Gene scissors are also used in plant research at Umeå University. Stefan Jansson is a professor at the Department of Plant Physiology and works primarily with basic research on plants, especially trees. Two questions his research groups are trying to answer are: “how does an aspen know it is autumn?” and “how can spruces and pines have green needles over winter?”.

“To answer such questions, it is important to be able to create plants that lack a specific protein. This allows us to understand its function. For this we use the CRISPR-Cas9 gene scissors. “We used to use other methods, but in most cases it’s easier and faster with CRISPR,” says Stefan Jansson.

Stefan Jansson, professor at the Department of Plant Physiological, unit: Umeå Plant Science Centre, UPSC. 

Image[Fotograf saknas]

Looking ahead to the future, Stefan Jansson hopes that regulations will be revised to allow the use of gene scissors to enable new plants that can have practical use.

“This has already started to happen outside the EU, but as the EU still considers all ‘CRISPR plants’ to be genetically modified, meaning they are controlled under a regulatory framework that is effectively a ban, their use in the EU has been forbidden. This is obviously a huge problem not only for competitiveness but also for health and the green transition; for example, plants that use fewer pesticides or produce healthier food would benefit everyone.”

Research on ethical dilemmas

Umeå University is also conducting research into the ethical implications of gene scissors. Madeleine Hayenhjelm is an associate professor at the Department of Historical, Philosophical and Religious Studies and studies the ethics of risk and moral philosophy.

“One of the areas I am interested in is how to make responsible decisions about new technologies so as to avoid disastrous societal consequences on the one hand while not obstructing development and progress on the other. I am looking at whether there is a moral principle that can guide this type of decision making,” she says.

For example, she has researched various ethical aspects of gene scissors, including examining the ethical literature on controversial applications, such as germline gene editing and radical human ‘enhancement’.

“A co-authored monograph is in the works, providing an overview and introduction to the main arguments in the literature.”

Madeleine Hayenhjelm, associate professor in Philosophy at the Department of Historical, Philosophical and Religious Studies. 

ImageMattias Pettersson

Looking to the future, she sees a number of aspects related to gene scissors that are important to examine.  

“Gene drivers and ‘amateurs at home experiments’ are risk factors that are important to monitor. As is the high costs of gene therapies, which is an equity issue that affects who gains access to treatments and who does not. Another area is gene editing as an important part of climate adaptation, not least in relation to food security. From an ethical perspective, I am particularly interested in understanding the extent to which germline gene editing can be developed to be non-heritable and/or reversible and to what extent this would affect moral conclusions,” she says.

These are just a few examples of ongoing research using and about gene scissors at Umeå University and around the world. We have every reason to stay up-to-date about developments with genetic technology’s sharpest tool. 

Contact and information

Barbara Sixt Research fellow

Email

+46 90 785 67 42 +46 90 785 25 95

Björn Pilebro Assistant professor, combined with clinical employment

Email

+46 90 786 90 20

Stefan Jansson Professor

Email

+46 90 786 53 54

Madeleine Hayenhjelm Associate professor

Email

+46 90 786 70 33