A Team of Awesome Women & the Nobel Prize

Strong women come in all sizes, colors, religions, and abilities. Today we celebrate two women who discovered one of the greatest breakthroughs in the biological sciences. Dr. Emmanuelle Charpentier and Dr. Jennifer A. Doudna were awarded the 2020 Nobel Prize for Chemistry this week for their development of a groundbreaking method for editing DNA. They discovered the genetic scissors called CRISPR/Cas9. It’s a tool that allows scientists to “snip” the DNA of organisms, “allowing for easy and precise genetic modifications.” They are the sixth and seventh women in history to win the Nobel Prize in Chemistry and the first pair of women to win the chemistry prize. This team of awesome women teamed up for a common goal, and the results are world changing.

Image of the Nobel Prize Museum in Stockholm, where photos of this Team of Awesome Women will appear
The Nobel Prize Museum, Stockholm, by Liridon, CC BY-SA 4.0 via Wikimedia Commons

Excellence is never an accident. It is always the result of high intention, sincere effort, and intelligent execution; it represents the wise choice of many alternatives—choice, not chance, and determines your destiny.

Aristotle (384-322 BC)

Dr. Emmanuelle Charpentier

Emmanuelle Charpentier was born on December 11, 1968 in Juvisy-sur-Orge, a commune in northern France, 18km south-east of Paris. 

Charpentier studied biochemistry, microbiology and genetics at the Pierre and Marie Curie University. She received a research doctorate from the Institut Pasteur in 1995. She moved to the United States in 1997.

As a postdoctoral fellow at New York’s Rockefeller University, she helped show how Streptococcus pneumoniae develop vancomycin resistance. (Read more about S pneumonia a leading cause of bacterial pneumonia and meningitis and other infections in the United States.)

Charpentier also worked at the St. Jude Children’s Research Hospital and at the Skirball Institute of Biomolecular Medicine during her five-year stay in the U.S.

In 2002 her work took her to Vienna, then to Sweden, and to the Max Planck Institute for Infection Biology in Berlin.

Charpentier approached Jennifer Doudna at a research conference in 2011. And a team of awesome women formed.

Dr. Jennifer Doudna

Jennifer Doudna was born in Washington, D.C. in 1964. She moved to Hawaii when she was seven years old. There, her educator parents encouraged her love of the biological sciences. 

She received her Bachelor of Arts degree in Biochemistry and earned a Ph.D. in Biological Chemistry and Molecular Pharmacology from Harvard Medical School in 1989.

From early in her career, Doudna studied RNA. At Yale in her group crystallized and solved the three-dimensional structure of the catalytic RNA. Her experiments with high powered x-ray diffraction at Berkley gained her further recognition. 

The list of awards and honors she has received is long.

In 2011, she met Charpentier at a research conference. After that, she cancelled all her other obligations to focus on researching CRISPR. 

CRISPR

Both Doudna and Charpentier studied Streptococcus pyogenes bacteria. Also known as Strep A, the DNA of this bacteria has segments that repeat. 

Other scientists had discovered fragments of genetic material from viruses attacking Strep A between the bacteria’s repeating DNA segments. They named these fragments ‘clustered regularly interspaced short palindromic repeats’ or CRISPR. CRISPR prevented those viruses from attacking the Strep A for a second time. But nobody was sure how the bacteria’s immune response worked.

Charpentier and her team discovered that the bacteria made a previously unknown form of RNA that recognized the genes of viruses if they attempted to attack the bacteria again.

Charpentier needed to collaborate with an expert on RNA. Doudna was her choice.

Two Awesome Women Team Up

They discovered that Strep A used an enzyme called Cas9 to slice up viral genetic material and incorporate it into its own DNA. They wondered if they could create a piece of RNA to target a specific point on any gene, not just a viral one.

In one year’s time, they successfully created a modified RNA segment. They called this segment CRISPR RNA. This segment “known as CRISPR RNA or crRNA, that guides the segment to the right place and then uses Cas9 to snip out a piece of DNA with extreme precision, in some cases as small as a single genetic letter.”

The Impact

Scientists around the world already use their discovery. Scientists are using CRISPR/Cas9 to develop cancer-fighting drugs, to create crops that can better withstand drought, to treat genetic diseases, and in many other applications. You may remember the article, Hope of a Cure for Sickle Cell, posted on this blog in July.

Typically, acceptance and common usage of breakthrough scientific discoveries takes a decade or more. And it’s at least a decade, often longer, before the discovering scientists get considered for a Nobel Prize.  

This technology has utterly transformed the way we do research in basic science,” asserts Dr. Francis Collins, director of the National Institutes of Health. “I am thrilled to see Crispr-Cas getting the recognition we have all been waiting for and seeing two women being recognized as Nobel Laureates.”

Ethical Questions

Both Doudna and Charpentier are aware of the potential for ethical issues related to their discovery.

In 2019, Chinese scientist He Jiankui said he had used CRISPR on two human embryos. His announcement caused a raging scientific scandal.

Doudna’s recent book A Crack in Creation: Gene Editing and the Unthinkable Power to Control Evolution, explores the ethic issues related to CRISPR. She cautions, “we as a community need to make sure we recognize we are taking charge of a very powerful technology.”

Congratulations and Cautions

In eight short years, Doudna’s and Charpentier’s discovery has changed scientific research. The world is teetering on the edge of breakthrough treatments and cures for many diseases. Their shared Nobel Prize is extraordinary and well deserved.

But their discovery also has the world balanced on the edge of a slippery slope. Genetically altered embryos to cure disease could end up with genetically designer babies. How far will we go? Many science fiction books explore what might happen when we can alter the genes of animals and humans. In my Fellowship Dystopia series, primitive genetic manipulation creates an army of assassins and a war.

So far, scientists are self-regulating. Will we someday need a global board for ethical review? And how some misuse that power? 

These two awesome women teamed up for a common goal, and the results are world changing. Who knows what the next team of women will achieve. Anything is possible.

Hope of a Cure for Sickle Cell

In the midst of the pandemic and protests and political mayhem, the grim news can be overwhelming. But there’s wonderful news, too. Remember the gene-editing technique, CRISPR? A year after gene-editing, a woman with severe sickle cell disease feels great. This success signals hope of a cure for Sickle Cell disease.

image of brown hand, thumbs up because there's hope of a cure for sickle cell disease

Sickle Cell Disease

According to the Centers for Disease Control, Sickle Cell Disease (SCD) is a group of inherited red blood cell disorders.

A healthy red blood cell is round. It travels through our blood vessels, even the tiny capillaries, and delivers oxygen to all parts of the body. When a person has SCD, their red blood cells become hard and sticky and shaped like a farm tool called the sickle.

Image of a sickle, a c-shaped tool which is what red blood cells look like in SCD, but there is now hope for  a cure for Sickle Cell Disease

These abnormal cells get stuck in small blood vessels. This clogs blood flow. It can cause mild-to-severe pain and many serious problems like strokes. These cells also die early, causing anemia.

There are three common types of Sickle Cell and three rare types. Some people carry the trait (they have half the genetic material that causes the disease). If two people with the trait have a child, they have a 50% chance of passing on the trait and a 1-in-4 chance their child will have the disease. 

SCD occurs among about 1 out of every 365 Black or African-American births. SCD occurs among about 1 out of every 16,300 Hispanic-American births. About 1 in 13 Black or African-American babies is born with sickle cell trait (SCT). Historically, mortality in the first three years was 38%. This has improved, but premature death remains a risk of this disease.

The first symptoms of the disease occur during the fifth to twelfth month of life. The only cure for SCD is bone marrow or stem cell transplant. Both procedures have risks and complications. It’s not an option for everyone.

The CRISPR Treatment

In 2019, at least two patients with severe SCD received an injection of CTX001 in a trial.

CTX001, made using the gene-editing tool, CRISPR-Cas9 changed the patients’ blood cell so they produce high levels of fetal hemoglobin. 

Fetal hemoglobin is present before birth and drops to trace amounts about six months after birth as hemoglobin A (adult hemoglobin) production takes over. Fetal hemoglobin inhibits sickling.

One Year Out

Victoria Gray, 34, is the first patient to have received CTX001. NPR reported that one year after the injection she is thriving. The treatment has alleviated nearly all her complications of SCD. 

She’s grateful and expresses that the treatment came just in time. She’s not needed to go to the hospital at a time when the pandemic makes that a scary place to be and while the National Guard deployed her husband.

Scientists are optimistic that this experiment is a success.

The Future 

I could not find out about the second patient who received the treatment, which suggests the experiment hasn’t been 100% successful. But it gives us hope of a cure for Sickle Cell Disease. And as a nurse who has witnessed the terrible effects of SCD, I am rejoicing alongside the 100,000+ Americans who suffer from this disease. May the future bring even better news and not just for SCD but for other dreadful genetic diseases.