Teen Tackles a Deadly Disease

One summer day in 2020, 14-year-old Kamisi Adetunji took a walk with her mom and had a conversation she’ll never forget. The two spoke about family members and friends who suffered from sickle cell disease. This illness, which is passed from parents to their children, can cause severe pain and dangerous health problems.

In the United States, about 100,000 people suffer from sickle cell disease. It’s most common in people of African descent, but it also strikes people whose families are from Central and South America, India, and Saudi Arabia. Kamisi’s family immigrated to the U.S. from the West African country of Nigeria when she was 2 years old. She grew up in North Carolina.

One summer day in 2020, 14-year-old Kamisi Adetunji took a walk with her mom. Kamisi will never forget their conversation. They spoke about family members and friends who had sickle cell disease. This illness is passed from parents to their children. It can cause severe pain and dangerous health problems.

In the United States, about 100,000 people have sickle cell disease. It’s most common in people of African descent. But it also strikes people with family lines from Central and South America, India, and Saudi Arabia. Kamisi’s family is from the West African country of Nigeria. When she was 2 years old, they moved to the U.S. She grew up in North Carolina.

Even though sickle cell disease runs in her family, Kamisi didn’t know much about it. After the conversation with her mother, though, she decided to learn more. When it came time to pick a science project in 11th grade, Kamisi knew just what she wanted to explore: better therapies for sickle cell disease.

“There weren’t a lot of treatment options,” says Kamisi, who is now 18. “I wanted to be one of the people looking for them.” Her research earned her a spot as a finalist in this year’s Regeneron Science Talent Search, a science competition for 12th-graders in the U.S. But more important, her experiments highlighted a potential new way to help people living with sickle cell disease.

Sickle cell disease runs in her family, but Kamisi didn’t know much about it. After she talked with her mother, she decided to learn more. In 11th grade, Kamisi had to pick a science project. She knew just what she wanted to study. She would explore better therapies for sickle cell disease.

“There weren’t a lot of treatment options,” says Kamisi, who is now 18. “I wanted to be one of the people looking for them.” She entered her research in this year’s Regeneron Science Talent Search. It’s a science competition for 12th-graders in the U.S. She earned a spot as a finalist. But more important, her experiments featured a possible new way to help people with sickle cell disease.

Before Kamisi could begin looking for a way to combat sickle cell, she had to learn how the disease makes people sick. The condition affects red blood cells, which transport oxygen throughout the body. These cells contain a protein known as hemoglobin, which oxygen molecules latch on to. “Normally, hemoglobin floats around freely within the red blood cell,” says Dr. Erica Esrick, a pediatrician at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center in Massachusetts. Each red blood cell is like a round, squishy hemoglobin-filled beanbag that can easily squeeze through narrow blood vessels (see Healthy vs. Sickled Red Blood Cells, above).

In people with sickle cell disease, red blood cells don’t flow as smoothly through blood vessels. These individuals have inherited a gene—a unit of hereditary material—that contains a small change to the instructions for making hemoglobin. This mutation causes cells to produce proteins with an abnormal shape. “Instead of floating around freely, the hemoglobin links together and makes long, rigid polymers within the red blood cell,” says Esrick. These repeating chains of hemoglobin force the cell into a stiff sickled, or curved, shape that can get stuck inside blood vessels. Such blockages can cause severe pain, damage to body parts, or even stroke—a condition caused by lack of blood flow to the brain. Red blood cells also can’t deliver oxygen throughout the body as efficiently as they should. Organs, like the kidneys, can become damaged over time.

To develop sickle cell disease, a person must inherit the genetic mutation from both parents. But someone who inherits the gene from only one parent can still pass the mutation along to the next generation. “If both parents are carriers, there’s a one out of four chance that a child of theirs will have sickle cell disease,” says Esrick.

Kamisi wanted to find a way to fight sickle cell. But first, she had to learn how the disease makes people sick. The condition affects red blood cells. They transport oxygen throughout the body. These cells contain a protein known as hemoglobin. Oxygen molecules latch on to hemoglobin. “Normally, hemoglobin floats around freely within the red blood cell,” says Dr. Erica Esrick. She’s a pediatrician at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center in Massachusetts. Each red blood cell is like a round, squishy, hemoglobin-filled beanbag. It can easily squeeze through narrow blood vessels (see Healthy vs. Sickled Red Blood Cells).

It’s different in people with sickle cell disease. Their red blood cells don’t flow as smoothly through blood vessels. The problem is a certain gene—a unit of hereditary material. It contains a small change to the instructions for making hemoglobin. This mutation causes cells to produce proteins with an abnormal shape. “Instead of floating around freely, the hemoglobin links together and makes long, rigid polymers within the red blood cell,” says Esrick. These repeating chains of hemoglobin force the cell into a stiff sickled shape. The curved cell can get stuck inside blood vessels. Such blockages can cause severe pain or damage body parts. They can even cause stroke. This condition results from a lack of blood flow to the brain. Red blood cells also can’t deliver oxygen throughout the body as well as they should. Kidneys and other organs can become damaged over time.

There’s one way to develop sickle cell disease. A person must inherit the genetic mutation from both parents. Some people inherit the gene from only one parent. But they can still pass the mutation along to the next generation. “If both parents are carriers, there’s a one out of four chance that a child of theirs will have sickle cell disease,” says Esrick.

Right now, treatments for sickle cell disease are limited. “Current treatment mainly focuses on treating symptoms of the disease,” says Kamisi. “I wanted to create a method of direct treatment—something that would actually inhibit sickling.”

While looking at past sickle cell research, Kamisi came across two groups of substances that seemed promising at addressing the root of the disease. Flavonoids—compounds found in fruits, vegetables, and other plants—are known to reduce sickling. Another group of compounds, called aldehydes, can bind to hemoglobin in sickled cells and increase the protein’s ability to carry oxygen. Kamisi wondered: If she were to chemically combine a flavonoid and an aldehyde, would the new compound be even better at preventing red blood cells from sickling than a flavonoid alone? “I figured if I put them together, maybe something would happen,” she says.

Treatments for sickle cell disease are limited. “Current treatment mainly focuses on treating symptoms of the disease,” says Kamisi. “I wanted to create a method of direct treatment—something that would actually inhibit sickling.”

Kamisi looked at past sickle cell research. Two groups of substances caught her attention. She thought they might address the root of the disease. Flavonoids are found in fruits, vegetables, and other plants. These compounds are known to reduce sickling. Aldehydes are another group of compounds. They can bind to hemoglobin in sickled cells and allow it to carry more oxygen. Kamisi wondered: What if she chemically combined a flavonoid and an aldehyde? Would the new compound prevent red blood cells from sickling even better than a flavonoid alone? “I figured if I put them together, maybe something would happen,” she says.

Kamisi worked in the science lab at her high school to extract four different flavonoids from oranges, red grapes, and blackberries. She used a chemical reaction to change the flavonoids’ structures, which allowed an aldehyde to attach to the molecules.

Next Kamisi needed to test the effect of her four new compounds on abnormally shaped hemoglobin. She got a sample of the protein from a scientific supply company and added a chemical that triggered the hemoglobin to link together in the same way that causes sickling. One at a time, she mixed her new compounds into samples of the hemoglobin solution.

Kamisi used a laboratory device called a microplate reader to determine the amount of linked hemoglobin present in each sample. She found that all four of her modified compounds were more effective than unaltered flavonoids at stopping hemoglobin from linking up, therefore preventing sickling. “When I analyzed the results and realized it actually did what I intended, that was incredible!” she says.

Kamisi worked in the science lab at her high school. She removed four different flavonoids from oranges, red grapes, and blackberries. Then she used a chemical reaction to change the flavonoids’ structures. That allowed an aldehyde to attach to the molecules.

How would her new compounds affect abnormally shaped hemoglobin? Kamisi needed to test all four compounds. She got a sample of hemoglobin from a scientific supply company. Then she added a chemical. It triggered the hemoglobin to link together in the way that causes sickling. One at a time, she mixed her new compounds into samples of the hemoglobin solution.

Then Kamisi used a laboratory device called a microplate reader. It revealed the amount of linked hemoglobin in each sample. The results? All four new compounds were good at stopping hemoglobin from linking up. That means they prevented sickling. And they were more effective than the original flavonoids. “When I analyzed the results and realized it actually did what I intended, that was incredible!” she says.