September 2024

In 1910, a Chicago doctor published a paper about a patient. The patient had fatigue, shortness of breath, and a racing heart. They also had frequent episodes of fever and pain.

And when the doctor looked at the patient’s red blood cells under a microscope, the cells looked different. Instead of their normal disc-shape, the cells were squished and had a C-shaped curve—like a sickle.

This was the first case of sickle cell disease to be described in the United States.

It’s taken decades to properly treat sickle cell disease. Over 40 years ago, more than half of children born with the condition were expected to die before age 18. But things are a lot better today. More than 98% of babies diagnosed with sickle cell disease reach adulthood.

This month, let’s talk about what sickle cell disease is, some breakthroughs in research, and how All of Us can help sickle cell disease research move forward.

Red Blood Cells and Sickle Cell Disease

Sickle cell disease affects red blood cells. These cells have important jobs carrying oxygen from our lungs to our muscles and organs. Our bodies need that oxygen to function.

In sickle cell disease, the blood has fewer red blood cells. And the remaining sickle-shaped cells can’t deliver oxygen to the body as well as normal red blood cells. Not having enough oxygen in the body can cause someone to feel very tired. It can even affect someone’s ability to breathe.

The sickle cells also can’t move through the body’s blood vessels as well as normal red blood cells. The cells can get stuck along vessel walls and clump together like they are in a traffic jam. This can cause a lot of pain. The clumping cells can also put someone at higher risk for health problems. These problems include infections, eye problems, and stroke.

An Inherited Disease

Sickle cell disease is inherited. It is caused by variants, or little changes, in a specific gene. Each gene in your body has two copies—one from each of your parents. If a person has a sickle-cell-causing variant in both genes, they will have sickle cell disease.

If someone has a sickle-cell-causing variant on only one gene, they have sickle cell trait. People with sickle cell trait can often lead normal lives with no medical complications. But they can still pass sickle cell disease on to their children, especially if their partner also has sickle cell trait.

Breakthroughs in Research 

It took decades before researchers even fully knew what sickle cell disease was. But then treatments began appearing in the 1960s. The first breakthrough began with blood transfusions for patients with sickle cell disease. Researchers also made medicine that can keep red blood cells from sickling. And patients can receive bone marrow transplants in very severe cases. These treatments, with medicine for infections and pain, have made sickle cell disease much easier to manage.

It’s important to start treatment as soon as sickle cell disease is found. This has made genetic screening another important tool for doctors. Since 2006, newborns in all 50 states are screened for the condition. That means a baby’s family can know from the beginning that they’re dealing with sickle cell disease. And that means doctors can connect babies and children right away with medicine and treatments to help manage the condition.

People of African ancestry are more likely to have sickle cell disease and sickle cell trait. But people from Hispanic, southern European, Middle Eastern, and South Asian backgrounds get sickle cell disease, too.

All of Us includes participants from these many different backgrounds. That can lead to studies on sickle cell disease with a wider range of data. And that may lead to better research that applies to more people.

Sickle Cell Disease Research with All of Us

Right now, there are more than 1,300 All of Us participants with sickle cell trait. And there are more than 600 participants with sickle cell disease.

Data from these participants has helped researchers study other conditions that tend to occur in people with sickle cell trait. One is retinopathy. Retinopathy is an eye disease. It can cause loss of vision and even blindness. Knowing about co-occurring conditions can help researchers and health care providers take care of people with sickle cell trait.

There are more findings to come. Right now, researchers are using data from All of Us participants to examine how sickle cell disease and sickle cell trait can affect pregnancy and maternal health. They are also studying sickle cell disease’s effect on autoimmune disorders like HIV.

You can see more ongoing studies by visiting our Research Projects Directory.

Diverse Data Helps Us Learn More

Research has taken sickle cell disease from an incurable mystery to a condition that many live with today. And treatments keep improving. In 2023, the U.S. Food and Drug Administration approved two gene therapy treatments that can help red blood cells function better.

All of Us may someday be a part of the next new treatment for sickle cell disease. Thanks to the program’s participants, sickle cell disease is one of many rare conditions researchers are able to study.

This is why All of Us is so grateful for its participants. Having data from everyone leads to discoveries for better health—for everyone.

“I am a generalist at heart looking for the big picture,” said Sara Van Driest, M.D., Ph.D. “I don’t like to close doors.”

Growing up in rural Minnesota—the “land of 10,000 lakes”—Dr. Van Driest, All of Us’ director of pediatrics, had a broad perspective of the country’s expansive landscape. The fields and farms stretched miles, filling her mind with endless possibilities.

Her parents, Judy and Jerry Lawson, fueled her ambition and enthusiasm. They cultivated curiosity, a love of learning, and respect for all people. Her parents still live in their home along the Mississippi River Valley, where Dr. Van Driest grew up in the 1970s and 1980s.

“I’ve had many great mentors in my career,” Dr. Van Driest said. “My parents were the best role models.”

Dr. Van Driest credits her mother for her creativity in imagining possibilities when faced with challenges and seeing the value in multiple perspectives. Her mother was a neonatal intensive care nurse at Gundersen Lutheran Medical Center. She saw meaningful advances in the care of preterm babies throughout her career. This sparked Dr. Van Driest’s interest in pediatrics.

“She taught me that we all bring different insights to the table. Keep an open mind and open ears.”

Her father was an engineer and problem solver. He fixed vehicles of all shapes and sizes. Many were parked on their 10-acre lot. Watching her father fix all sorts of cars and trucks helped her see what could be built and transformed over time.

When she was 13, her dad brought home a broken-down 1962 Nova for her. The car sat in their lot for years. She saw a ruined car but knew her father had a plan. Decades later, his plan would carry her to the next chapter of her life.

On her wedding day in July 1999, her husband Steve rolled up in the car. He had secretly replaced the engine and fixed the car with help from her father and her brother, Erik. They rode in the car to their wedding reception. They have been driving the car around ever since.

“I am a big believer that it is as much about the journey as the destination,” Dr. Van Driest said. “I love learning how to get around in different ways.”

That’s not just talk. Dr. Van Driest has a driver’s license, a motorcycle license, and a pilot’s license. And she is a certified forklift operator to boot. Her journey from rural Minnesota to All of Us has been as varied as her modes of transportation.

A Path to Medicine

In high school, Dr. Van Driest told her parents she didn’t want to become a doctor, a teacher, or a researcher. Now having become all three, she attributes her comment to wanting to help in multiple ways.

“I am a generalist at heart looking for the big picture. I don’t like to close doors.”

Dr. Van Driest graduated from the University of Minnesota with a Bachelor of Arts degree in 1998. She chose a liberal arts degree rather than a Bachelor of Science, a more typical choice for students pursuing medical school. The Bachelor of Arts degree allowed her to broaden her studies. She learned French, abstract mathematics, and even modern art.

But Dr. Van Driest was still drawn to research, science, and medicine. She went to the Mayo Clinic College of Medicine for her doctoral and medical studies. At Mayo, she learned more about DNA, the code unique to each person. She learned how traits are passed on over time. And she learned about how peoples’ bodies process medicine differently based on their genes. The more she learned, the more she wanted to explore and discover. 

Her dissertation focused on a disease called hypertrophic cardiomyopathy. This causes the heart muscles to thicken. The heart also has a harder time pumping blood. At the time, researchers thought DNA was all that was needed to understand the disease.

“But I found that it wasn’t that simple,” Dr. Van Driest said. “Some people have more significant symptoms and side effects. You have to understand the various influences that impact health. It’s not just DNA.”

Dr. Van Driest earned both her medical and doctoral degrees by 2006. She went on to complete her residency in pediatrics and a clinical pharmacology fellowship. And she developed a career as a pediatrician and scientist at Vanderbilt University Medical Center. Over time, Dr. Van Driest has written and co-authored more than 100 research papers.

After 20 years of seeing patients, she found herself asking, “How can we avoid the trial and error approach to treatments? How can we prevent severe reactions? What are the triggers? I wanted to understand it better.”

A Passion for All of Us

Dr. Van Driest wants to better understand how disease changes throughout the lifespan. This focus fueled her passion to join All of Us. When publishing pediatric research papers, she often had to say that the paper needed to be validated with a larger database.

That large pediatric database does not yet exist. But with Dr. Van Driest’s leadership, the program has taken the first steps to build it. All of Us recently announced limited enrollment of children from birth through age 4 at five partner organizations.

“One of my goals as director of pediatrics at All of Us is to build a large, diverse, inclusive database so that researchers won’t have to write that disclaimer. And our families won’t have to tolerate the unknowns that come with trial and error,” Dr. Van Driest said. “We want to foster studies across pediatric disciplines that can improve health for kids of all backgrounds.”

Dr. Van Driest recently returned to her Minnesota roots. She moved from Nashville to Saint Paul to be closer to her parents and extended family.

“Tennessee will always be a special place to me. It is where I started my career, and it is where Steve and I raised our daughters,” Dr. Van Driest said. “But it’s great to be closer to home.”

Leading pediatric enrollment at All of Us, Dr. Van Driest sees a future where wide-ranging research discoveries can improve treatment, diagnosis, and prevention for children and families across the lifespan.

“We need to keep expanding our horizons,” Dr. Van Driest said. “But I’ve always had a translational perspective, which I attribute to my dad and mom,” she added. “I do absolutely believe that we need people who are doing research simply for the love of knowledge and to generate new ideas. But the way my brain works, I need to see a path as to how this is going to help all of us.”

New Research Highlights on Cancer and Diabetes

This month’s highlight is about medicines to fight cancer. If a cancer patient is having chemotherapy, health care providers have to decide which medicine to use and how much. Too much can be harmful. But if you get too little, it may not work. Health care providers use a genetic test to choose the right dose of two chemotherapy drugs. By looking at data from more than 245,000 All of Us participants, researchers realized that the DNA test does not always work as expected. As a result of this study, the recommended test has changed.

The August Research Highlight was on diabetes and heart disease. Diabetes increases your risk of heart disease. For that reason, medical guidelines say that all adults with diabetes should take medicine that lowers their risk of heart disease. Researchers looked at data from 81,332 All of Us participants diagnosed with diabetes. Only half were getting the recommended medicines. This study can help health care providers connect people with the medical care they need. 

Visit the Research Highlights homepage for other studies fueled by All of Us.

The All of Us Journey Exhibits

All of Us is on the road! This fall we’re bringing the All of Us Journey vehicles to communities across the country. At the Journey, you can see the power of participation in health research firsthand. And you can even sign up to be an All of Us participant, if you’d like. 

You can find an All of Us vehicle in the following cities on these dates: 

• September 24–27: West Columbia, SC
• October 1–4: Bismarck, ND
• October 1–4: Indianapolis, IN
• October 8–11: Orlando, FL
• October 14–16: Indianapolis, IN
• October 15–18: Kissimmee, FL