Emmanuelle Charpentier – Co-Founder of a Life-Changing DNA-Editing Tool

French scientist Dr. Emmanuelle Charpentier and her American colleague Dr. Jennifer A. Doudna received the 2020 Nobel Prize in Chemistry for their work developing a tool that enhances the ability to edit DNA. They are the first pair of female scientists to share the prize. 

The first woman to receive the Nobel Prize in Chemistry was Marie Curie, in 1911. Curie’s daughter, Irène Joliot-Curie, shared the prize with her husband in 1935. The only other previous female winners of the Nobel in Chemistry are Dorothy Crowfoot Hodgkin (1964), Ada E. Yonath (shared prize, 2009), and Frances H. Arnold (2018). 

Discovering “genetic scissors”

Charpentier and Doudna, who often worked together remotely, made discoveries in 2012 that provided the basis for gene editing as we know it today. These gene-editing tools allow scientists to make targeted alterations in existing DNA sequences, thus gaining the potential to create revolutionary treatments—and even cures—for major human diseases, improve the hardiness of livestock and staple crops, and relieve stresses on the environment through new industrial applications. 

Researchers call the molecular tool that Charpentier and Doudna discovered “clustered regularly interspaced short palindromic repeats,” commonly abbreviated as “CRISPR-Cas9,” or simply to “CRISPR.” This technology has shown itself to be much easier to use, more efficient, and more cost effective than previous methodologies for altering DNA sequences and modifying the functions of specific genes.

In fact, CRISPR-Cas9’s capacity as a precision gene segment cutting-and-reconfiguring tool led to its nickname, “genetic scissors.” It can edit the genomes of numerous species, ranging from food crops and insects to animals and human beings. 

Experts note that the technique not only has enormous continuing potential to completely transform laboratory research but to treat a wide range of illnesses. Someday, even serious viral diseases like hepatitis and HIV, along with cancer and rare, devastating genetic diseases like Huntington’s disease and sickle-cell disease, could be cured through CRISPR-based therapies. Experts believe the technique should be feasible for use in children and adults, as well as in utero. 

A lifelong love of science

Emmanuelle Charpentier, born in 1968, grew up outside Paris. Her mother worked in the psychiatric field and her father was a park ranger. Both parents strongly encouraged her many scholarly interests. As a young student, Charpentier enjoyed mathematics, the natural sciences, philosophy, and sociology. She remembers her father teaching her the Latin names of plant species, something she has said helped to deepen her fascination with biology.

She received an undergraduate degree in biochemistry from the Pierre and Marie Curie University and earned a graduate degree from the Pasteur Institute. Her research at the time centered on bacterial DNA segments that are ambient within the genome, facilitating the transmittal of resistance to certain drugs between individual cells. Charpentier finished her doctorate, with a focus on microbiology, at the Pasteur Institute, staying on to serve as a researcher after graduation. 

She later undertook advanced studies at Rockefeller University in New York, and she remained in the United States to work as part of the research teams at New York University Medical Center, St. Jude’s Children’s Research Hospital, and the Skirball Institute of Biomolecular Medicine. 

A revolutionary discovery

After moving back to Europe in 2002 to accept a research job at the University of Vienna, Charpentier made a discovery that would serve as one of the steps toward the discovery of CRISPR-Cas9.

She identified a regulatory RNA molecule, tracrRNA, that serves as a control mechanism for virulence factors in a species of bacteria known as Streptococcus pyogenes. Assisted by a molecular microbiologist working at the Max Planck Institute in Berlin, she was able to describe minute novel RNAs within the S. pyogenes genome. She then began to look more closely at the bacterium’s CRISPR system, part of its defense response to viruses.

When Charpentier began her investigations, she expected to find a more complex organizational system. She found instead that the CRISPR defense system of the bacterium is made of only three individual components: CRISPR RNA, the previously unknown trans-activating CRISPR RNA (tracrRNA), and the protein known as Cas9. 

In 2009 Charpentier began working at Sweden’s Umeå Centre for Microbial Research as she continued to learn more about the CRISPR system. Along with one of her former graduate students, she demonstrated how easy it was to get the CRISPR system to snip through and alter the configurations of DNA at particular spots within the genome.

Charpentier and her team determined that CRISPR RNA and tracrRNA work together to direct the Cas9 protein toward individual sequences of DNA. They announced these discoveries in 2010. Using what Charpentier and her team had revealed about the behavior of the CRISPR system, their colleagues around the world began to successfully pinpoint and change sequences in the genomes of a variety of living things. 

At about the same time, Doudna was mapping the cas proteins, a series of enzymes associated with CRISPR that snip apart DNA at specific spots. The two scientists began collaborating in 2011 after meeting at a conference. They were able to recreate the “genetic scissors” they’d seen within microbial genomes under laboratory conditions and reprogram them to cut apart DNA at designated locations with great precision.

Inspiration for the next generation

Charpentier, a member of the Royal Swedish Academy of Sciences and other international scientific organizations, is the co-recipient of a 2018 Kavli Prize in Nanoscience, a 2016 Canada Gairdner International Award, and a 2015 Breakthrough Prize in Life Sciences, among other honors. 

She is a co-founder of the company CRISPR Therapeutics, where she works on gene therapy applications in humans. She currently maintains a laboratory at the Max Planck Institute, which she founded in 2018 to improve research into disease-causing viruses and bacteria.

Upon learning she and Doudna had received the Nobel Prize, Charpentier said she hoped the attention focused on them would provide greater inspiration to girls and young women, encouraging them to follow careers in science.