Behind the Research: How Blood Cells Affect Your Cancer Risk
Maria Figueroa, M.D., has spent her career studying the blueprint of blood cells to understand how they generate diseases and cancers. Yet two decades into that career, she feels like she’s just getting started.
That’s because Dr. Figueroa’s time as a scientist has coincided with revolutionary advances in understanding the human genome and exponential leaps in computing power that are allowing her and her team at Sylvester Comprehensive Cancer Center to truly understand what they’re seeing.
When Dr. Figueroa completed her medical training in Buenos Aires in 2003, the human genome was just being mapped for the first time. Top-of-the-line experts in her field of hematology were running experiments one gene at a time. Collaboration between scientists meant picking up the phone, placing a long-distance call, and making revisions to their research by hand.
Now, Dr. Figueroa’s studies use advanced algorithms that examine over three million locations of the genome at a time as she collaborates virtually in real-time with labs around the world.
“I’m always blown away by what we’re experiencing as scientists,” she says. “The aspects of disease biology that have been uncovered, and the consequences that we’ve had for patients, I consider myself lucky and fortunate to be part of science at this time.”
The result, she hopes, is a deeper understanding of how genes function in blood cells paired with new technologies that will allow scientists to turn them “on” and “off” as needed.
“It’s the beginning of an era,” she says.
Dr. Figueroa’s lab in the University of Miami’s Miller School of Medicine‘s Department of Biochemistry and Molecular Biology has nine members and focuses on three core research areas:
- Understanding why one particular set of genes is always silenced, or “turned off,” in patients that develop leukemia and other blood diseases, and figuring out whether they can be manipulated as a treatment for leukemia;
- Identifying genes that can predict how patients respond to therapies so that we can tailor treatment to individual needs; and
- Researching blood diseases developed by elderly people to figure out why the aging process damages cells to the point that a person’s chances of developing a blood disease increase dramatically with every decade of age.
Dr. Figueroa uses the example of a computer to describe the effects of aging on the human body. Over time, a computer’s software will become corrupted by viruses and repeated use. The epigenome – which controls and commands a person’s genes – works in much the same way. “Our software gets corrupted too as we age,” she says.
One goal in each of Dr. Figueroa’s research areas is to continue shifting cancer treatment from a one-size-fits-all approach to a hyper-personalized experience for each patient.
Much of her time is spent developing diagnostic tests, identifying biomarkers that can be used to screen for blood diseases, and creating treatments that can be fine-tuned for each patient, similar to what’s been developed for other types of cancer.
On the diagnostic side, scientists have already created at-home tests to detect colon cancer, one of several screening tests used by the teams at Sylvester Comprehensive Cancer Center.
On the treatment side, other scientists have identified the genes that can be targeted in certain types of leukemia, allowing doctors to replace grueling chemotherapy treatments with pills that are taken orally and are proving to be far more effective.
Despite these advances, Dr. Figueroa says blood diseases are heterogeneous, or diverse, and not all patients respond in the same way to the therapies.
That means Dr. Figueroa’s team has more work to do, and more opportunities to make discoveries.
Her team’s biggest challenge now is finding enough samples to study some of these rare blood cancers. Her work requires a variety of samples to capture the high heterogeneity of these disorders so she can identify patterns and pinpoint genes common among patients suffering from similar diseases. To get that many patient genomes, Dr. Figueroa has established relationships with research institutions throughout the United States and Europe. Currently, she is working with cohorts of 250 patients, but she’s always looking for more.
“Through this network of world leaders, we have put together a very comprehensive cohort of (myelodysplastic syndrome) and (chronic myelomonocytic leukemia) patients,” she says.
That level of instant collaboration and the computational power required to study so many genomes at once is a far cry from where she started. Dr. Figueroa remembers being ordered to write her notes in black pen so they can be photocopied. She taught herself how to use Microsoft Excel and her bookshelf is lined with computer programming manuals that she used to learn how to write the algorithms needed for her work.
“Now I run a computational lab,” she says with a laugh.
Alan Gomez is a contributing writer for UHealth’s news service.
Tags: blood cells and platelets, blood disorders, Dr. Maria Figueroa, genomic sequence, red blood cells, risk of developing