THE CRUSADE OF DR. BETTY PACE

Why finding a cure for sickle cell disease is personal

By nicole sweeney etter
Photography by Lisa means

BETTY BUCKLEY PACE WAS JUST A GIRL when she met her lifelong nemesis — sickle cell disease. She couldn’t yet understand the abnormal, sickle-shaped red blood cells that made her friend Phyllis sick. But she saw Phyllis’ fatigue and excruciating pain. And then the disease stole 12-year-old Phyllis away.

“I remember her being so frail at the end. It really made an impression on me,” Pace says. She vowed then that she’d take on her friend’s foe. Phyllis’ journey was over, but Pace’s was just beginning.

Pace, Arts ’76, has devoted her life to searching for a universal cure for sickle cell disease, which affects two of every 1,000 African-Americans. Now a professor of molecular and cell biology at the University of Texas-Dallas and director of the Sickle Cell Disease Research Center, she has climbed to the top of her field, earning national and international recognition for her groundbreaking research. In 2003, Popular Science magazine named her one of the “Brilliant 10” scientists in the United States.

“She is one of Marquette’s bright shining stars,” says college friend Dr. Lauree Thomas,  Arts ’75.

The road to scientific stardom wasn’t without obstacles. Pace grew up as one of a dozen children in Racine, Wis., and she was the first in her family to attend college. Although she had offers from schools farther away, she found herself drawn to the Jesuit university just 45 minutes up the road. “I wanted to stay fairly close to home,” she says. “Marquette was a good school — Ivy League, in my mind — and that’s why I chose it.”

At Marquette, she was a quiet bookworm. She loved math and science, but she wasn’t yet sure where that would take her.

“I noticed how academically talented she was,” says Thomas, who roomed with Pace in Cobeen Hall. “She took her studies very seriously.”

Thomas encouraged Pace, a math major, to think about medical school. She was ecstatic when Pace took her advice and entered the Medical College of Wisconsin, but she never expected her former roommate to become an internationally respected scientist.

“Dr. Pace far exceeded my expectations. As she went to medical school, her talents really manifested themselves,” says Thomas, who is associate dean for student affairs and admissions at the University of Texas Medical Branch in Galveston, Texas.

AFTER GRADUATING from medical school, Pace stayed in Milwaukee and worked at the Medical College of Wisconsin and Children’s Hospital, where she was medical director of the sickle cell program for three years. She moved into research after taking a hematology/oncology fellowship at the University of Colorado Health Sciences Center, and she later worked in Seattle and Alabama. In 2003, she accepted the challenge to direct the Sickle Cell Disease Research Center in Dallas.

Pace’s insatiable curiosity is right at home in the lab.

“I love research, discovering how things work,” she says. “I’m more interested in how, rather than just the fact that something works. Research questions give you gray, but the challenge for me is working through the gray and getting to a black-and-white solution.”

As director of the Sickle Cell Disease Research Center, her job is now more mental than physical — she provides the ideas, vision and training so that others can execute the research.

Her lab’s mission: To develop a universal cure for sickle cell disease. In patients with the condition, genetically defective hemoglobin distorts normal disc-shaped red blood cells into the sickle shape. The deformed cells can get stuck in blood vessels, preventing oxygen from reaching organs and causing pain, anemia, organ damage and even stroke. Patients can die from organ failure or infection.

The disease is most common in people whose ancestors came from Africa, Saudi Arabia and other countries where malaria is common. Inheriting one copy of the sickle cell trait is protective against malaria. The danger comes when a child inherits the sickle cell trait from both parents.

Pace and her colleagues are trying to understand how the hemoglobin gene works at the DNA level. Using bone marrow stem cells, they study the fetal hemoglobin gene that blocks sickle hemoglobin and keeps the red blood cells in their normal shape. Pace recently discovered important proteins that reactivate the dormant fetal hemoglobin gene, allowing the body to heal itself. Stem cells from umbilical cord blood are of special interest; they are easy to manipulate because they’re not yet matured. Conceivably, gene therapy could be given in early childhood to prevent future complications.

“The earlier the treatment is given, the better the outcome,” Pace says.

These and other approaches are being developed as a way to correct stem cells and cure sickle cell disease. It’s been a slow and steady process, but Pace is optimistic that they will eventually have a major breakthrough.

“Hopefully within a few years we’ll have gene therapy for sickle cell patients,” she says.
Until now, drug therapy has been used to treat sickle cell disease. The only known cure is a bone marrow transplant. This high-risk procedure has been used on only 200 children worldwide because of its many complications and the difficulty of finding a suitable bone marrow donor.

Pace has focused her research on discovering a universal cure. “Even if we find a universal cure, not everybody wants to have their genes manipulated, so there’s still a need for better drug treatments,” she says.

But she has another worry: Funding. The research in the center is largely funded by the National Institutes of Health. With increased competition for fewer dollars, the future of her research could be in jeopardy.
“At times I am fearful that I won’t be able to finish what we’ve started,” she says.

FUNDING ISN'T Pace’s only challenge. She’s used to being the sole minority voice in a Caucasian male-dominated field.

“I think most people in the field respect what I do,” she says. “But it hasn’t been easy — from two perspectives, being a woman, but also being African-American. It has been a hard and isolated career path, but you learn to deal with it.”

And Pace has met that challenge in the same way she approached her studies at Marquette: By working as hard as she can.

“Being a researcher is a hard job, you have to earn the respect of your colleagues, and know that you will be dedicated to the end,” she says.

Pace recently was named chief medical officer of the Sickle Cell Disease Association of America, and her new textbook is further proof of the respect she’s earned in the field. Forty experts from around the world contributed to the text, which covers the history and impact of sickle cell

disease, progress in treatment and current research.

The sample blood smear shows both normal and sickle-shaped red blood cells.

Dr. Francis Collins, who was head of the Human Genome Project, wrote the book’s foreword.

“I was very, very proud of finishing the book. I can remember when I published my first paper and being excited. But the book was on a different level,” she says.

Teaching is still one of her passions, and Pace’s dual physician-scientist background gives her a unique perspective. She mentors and trains junior faculty and teaches genomics at the graduate level.

“There’s no greater honor than teaching and having students anxious to learn,” she says.

With 50- to 60-hour workweeks, work-life balance can be hard to achieve. But Pace always makes time for her family — her husband, Joe, and three children — and her spirituality. A professional gospel singer, she worked with her music producer husband to create a solo gospel CD called Worship Warrior, and she’s the founder of Worship Warrior Enterprises, which provides vocal training and other resources to Christian music groups.

People often ask her whether there’s a conflict between her science and her spirituality. She doesn’t think so.

“I believe all the success that I enjoy is because of my faith, and when times are really hard, my faith has pulled me through,” she says. “There’s no other way that I could have made it.”

She also feels God’s hand in her work. She believes it’s no accident that her childhood friend introduced her to the field that would become her life’s work. “I’m doing what I’m supposed to do.”

	• Sickle Cell Disease Research Center
	• Sickle Cell Disease Association of America
	• Dr. Pace's Worship Warrior Enterprises