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.

Should You Worry About Saboteur Genetics?

Most of us are familiar with the discomfort of a mosquito bite. And unfortunately, many of us have acquired a disease from a mosquito bite. In January 2021, the eggs of more than 750 million genetically modified male mosquitoes will be released in the Florida Keys. Their modifications create a form of genetic sabotage. Should you worry about saboteur genetics?

a mosquito biting a human arm--saboteur genetics means the female won't survive to bite but should you worry about saboteur genetics?

In today’s article, we’ll discuss the mosquito, the diseases carried by this species of mosquito, and what we know about this test. 

The Mosquito

Life Cycle

There are 3,500-4,000 species of mosquitoes. Their life cycle from birth to larva takes from five to forty days, depending upon ambient temperatures, density of larval population, and food supply.

Most mosquito lay their eggs on the surface of stagnant water. Clutches of eggs of hatch as soon as possible, and all the eggs in the clutch hatch into larvae at much the same time.

As larvae, they are mobile and feed on algae and organic material. Larvae develop through four stages, then they metamorphose into pupae.

Pupae typically hang from the surface of the water by their respiratory trumpets. Depending on temperature and other circumstances, in a few days the adult mosquito emerges.

Adult Mosquitoes

Within a few days, the adult mosquito mates. In most species, the males form large swarms around dusk, and the females fly into the swarms to mate.

The males live about five to seven days. The females live up to a month.

Both male and female mosquitoes feed on nectar, aphid honeydew, and plant juices. In many species, the females’ mouthparts can pierce the skin of animals. They feed on blood from  vertebrates, (mammals, birds, reptiles, amphibians, and some fish. Some invertebrates, primarily other arthropods). The blood contains protein and iron needed to produce eggs. 

Blood-sucking mosquitoes inject saliva into their victims. Their saliva acts like an anticoagulant; without it, the female mosquito’s proboscis might become clogged with blood clots. The saliva also is the principal route by which mosquito transfers pathogens into the bodies of their blood source.

And that is the crux of the matter.

Mosquito-carried Diseases

Mosquitos can carry viruses, bacterial disease, and parasites. They remain unaffected by the disease and transfer it to their human (or animal) host via their saliva.

Malaria is a parasitic disease. You probably already knew mosquitoes carried it. But it’s not a disease the Florida officials are trying to reduce or eradicate.

Diseases you may have heard of include the Zika virus, yellow fever, dengue fever, and West Nile fever. There are many more, but these are the primary diseases that concern the officials in Florida. In 2009 and 2010, the Florida keys suffered outbreaks of dengue fever.

Truck fumigation of a city street. Should you worry about saboteur genetics or fumigation?

The Florida Keys attempts to control the mosquito population with aerial, truck, and backpack spraying larvicides and pesticides at a cost of more than a million dollars per year. Their efforts are not effective.

Saboteur Genetics

It has taken almost a decade to get seven state agencies and the EPA to approve the experiment that will begin in January 2021.

Oxitec is the US owned, British-based company that developed the genetically modified organism (GMO). They altered the male mosquito’s genetics to produce female larvae that die. Thus the females never get to adult stage where they would bite anyone.

According to Oxitec, they tested this GMO mosquito in the Cayman Islands, Panama, and Brazil. They report that release of their GMO male reduced this species of mosquito by 95% in an urban area of Brazil.

Oxitec will release over 750 million male eggs over a two-year period. The FDA requires Oxitec to notify Florida state officials 72 hours before releasing the mosquitoes. They also must conduct ongoing tests for at least 10 weeks after release.

Oxitec also plans to release this GMO mosquito in Harris County, Texas, in 2021.

Environmental & Human Risk

Oxitec states they have released billions of the GMO mosquitos. “There is no potential for risk to the environment or humans.” But some fear there will be an impact to local birds, fish, and insects who feed on mosquitoes.

Others are angry that Florida Keys officials are spending money on these GMO mosquitoes during the pandemic, economic hardships, and racial tensions. They feel spending the money on those issues would be better.

Worry About Saboteur Genetics?

It’s hard to know. The EPA declined to run its own safety tests on this GMO. Oxitec says they have plenty of evidence of their claim that there is no risk. I tend to not trust self-reporting and self-regulation by a private corporation. On the other hand, wiping out these awful disease would be a very good thing. Does the good outweigh the risk? Florida Keys officials think so.

These mosquitos are not the first GMO insect released in the United States.  The first GMO insects released in the US, also from Oxitec, were early versions of pink bollworm moths. The program intended to wipe out this cotton pets in the U. S Southwest. The GMO insect only had a genetic marker. This modification only identified it. It did not alter its fertility or lifespan.

In this transcript from NPR’s All Things Considered, Ari Shapiro speaks with Nora Besansky, a professor of biology specializing in mosquitoes, about what would happen if mosquitoes were eradicated.

Are you worried? Is your worry based on your risk-aversion? Or perhaps it’s based on a lack of control? Or perhaps, you fear we are on the verge of our own version of Jurassic Park like in my post conservation genetics. Let me know in the comments. Should you worry about saboteur genetics?

The First to Discover the Sex Chromosomes

When women rarely went to high school, Nettie Maria Stevens (1861-1912) wanted to be a research scientist. We don’t know a lot about her personal life, but she became a biologist. And though she received little credit for it during her lifetime, she was the first to discover the sex chromosomes.

Photograph of Nettie Stevens the first to discover the sex chromosomes

The Incubator (courtesy of Carnegie Institution of Washington) / Public domain

Before the 1900s, the link between Mendel’s genetic rules and gender were unclear. Scientists didn’t know what factors determined the sex of an offspring. Some believed external factors such as temperature and nutrition influenced gender. Very few thought chromosomal factors were responsible for the gender of offspring.

Early Life

Born on July 7th, 1861 in Cavendish, Vermont to Julia and Ephraim Stevens. Records of her early life are sketchy. We know her mother died relatively early in Stevens’s life but don’t know what caused her death. 

Her father, a carpenter, remarried and the family moved to Westford, Massachusetts. He earned enough to send both of his daughters to high school, though it was uncommon to educate women. Stevens graduated from Westford Academy in 1880. She and her sister, Emma, were two of three women to graduate from her high school.

Teacher, Librarian, and Student

Stevens wanted to become a scientist but needed to earn money for her higher education. She became a teacher and a librarian.

She taught courses in physiology and zoology, mathematics, Latin, and English.

After teaching for three terms, she continued her education at Westfield Normal School (now Westfield State University) completing the four-year course in only two years and being graduated with the highest scores in her class.

She enrolled in the one-year-old Stanford University in 1896. By 1899 she’d earned her B.A. and graduated with an M.A. in biology in 1900.

For a year, she did graduate work under Oliver Peebles Jenkins and his former student and assistant professor, Frank Mace MacFarland. During this time, her work in physiology focused more and more on histology.

She earned her PhD from Bryn Mawr College in 1903.

And in 1904 she received a fellowship from the Carnegie Institution of Washington.

Discovering the Sex Chromosomes

She wrote and published a research paper in 1905. “Studies in Spermatogenesis with Especial Reference to the ‘Accessory Chromosome’” was one of the 20th century’s major scientific breakthroughs. 

Stevens studied insects and discovered the sperm cells would differ by one chromosome. Some sperm cells carried a large chromosome while others carried a smaller one. She noticed that unfertilized eggs did not have this difference and concluded that the smaller chromosome was responsible for sex determination.

Today we know these two chromosomes as X and Y.

Uncredited

Most scientists of the time did not embrace Stevens’s findings.

Edmund Wilson, another researcher, independently made a similar discovery. Because of his higher reputation (and in my opinion, his gender), he received credit for her discovery when his own discoveries and papers were not as strong or as accurate.

She remained uncredited for her discovery until scientific research and society grew to acknowledge and search for accomplishments by women.

Death

At 50 years old, Stevens had published more than 38 papers in cytology and experimental physiology. Finally, she was offered her dream job, a research professor at Bryn Mawr College, but was too ill to accept the position. 

She died of breast cancer on May 4, 1912. They buried Stevens in the Westford, Massachusetts cemetery beside her father and her sister.

They buried Stevens in the Westford, Massachusetts cemetery beside her father and her sister.

Legacy

The National Women’s Hall of Fame inducted Stevens into the Hall in 1994.

Google displayed a doodle showing Stevens peering through a microscope at XY chromosomes on July 7, 2016, her 155th birthday.

Westfield State University opened the Dr. Nettie Maria Stevens Science and Innovation Center on May 5, 2017.

The state-of-the-art building houses the university’s “STEM-related degree programs.” (Nursing and Allied Health, Chemical and Physical Sciences, Biology, Environmental Science and the master’s degree program in Physician Assistant Studies.)

It takes a special kind of strength to lead a life outside of society’s norms. This post is part of an ongoing series that celebrates women who are role models, leaders, and strong women.

Nettie Stevens was the first to discover the sex chromosomes and realize that one of them determined gender. Her discovery opened the doors of science and led to things like the identification of hereditary diseases, understanding human and animal development, and even the onset of forensic science. Tip of the hat to Dr. Nettie Stevens.

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. 

A Cool Blend of Science and Technology

Almost 9,000 years ago, ancient Chinese fermented rice, honey, and fruit. Ancient Egyptians dared to use yeast for leavened bread in 1000 BC. On the other side of the world, Aztecs made cakes with Spirulina algae. What do these foods and beverages have in common? It’s doubtful that any of these ancient peoples understood the science. Yet, they each performed an early bit of biotechnology. Biotechnology has grown from its humble origins into a cool blend of science and technology.

image of a strand of blue DNA against a dark blue background--one of the things we can now manipulate for biotechnology

What is Biotechnology?

Hungarian engineer, Karl Ereky, coined the term in 1919. He invented the term to describe the creation of products from raw materials with the aid of living organisms. While the term is relatively new, humans have always manipulated raw materials hoping to make our life better. 

Don’t quite understand what biotech is yet? According to Merriam-Webster Dictionary biotechnology is the manipulation (as through genetic engineering) of living organisms or their components to produce useful products. The dictionary includes that these are usually commercial products (such as pest resistant crops, new bacterial strains, or pharmaceuticals).

The History of Biotechnology

You may recognize many names in the history of Biotechnology. Names like Darwin, Mendel, Miescher, Boveri, Morgan, Levene, Chargraff, Avery, and many more. These are the folks whose discoveries built one on the other to allow many the cool blend of science and technology.

Here’s a six-minute video that traces the discoveries of DNA, genes, and chromosomes “as fast as possible.” Some information may be a review, but I’ll bet you’ll learn a new name or two.

Types of Biotechnology

Medical Biotechnology uses this science to understand the human body. They search for cures, treatments, or preventatives for diseases. Examples: vaccines, antibiotics, etc.

Agricultural Biotechnology focuses on developing high-yield crops and earth-friendly pest control. Examples: pest-resistant crops, plant and animal breeding, etc.

Industrial Biotechnology strives to develop materials with biological elements. Examples: Construction, manufacturing wine and beer, washing detergents, etc.

Within each of these broad categories are too many subcategories to mention here. But you’ll learn more in future blog posts.

Why Talk About Biotechnology?

As a former nurse and a science fiction author, I am always interested in how science and technology come together to enhance our lives. I’ve blogged about nanobots and pharmacogenomics. And you can bet I’ll write new posts about biotech in development—what they hope to gain and the implications and ethics involved. Will these biotech items appear in a story someday? Hmmm. If you really want the answer to that, join my newsletter and get updates about my writing projects. Next week, I’ll share a cool new biotech that has applications for VR games and real life!