Getting to the genetic basis of cardiovascular disease

If Edwin G. Peña Martínez were speaking to high school students, he’d explain the science behind his work this way: “Spiderman got his superpowers from mutations. But for us, mutations cause diseases and are not necessarily a superpower.”

Courtesy of Edwin G. Peña Martínez

Edwin G. Peña Martínez received a JBC Tabor award for associating cardiovascular disease with mutations in noncoding sequences.

Peña Martínez is a fifth-year doctoral student in biochemistry at the University of Puerto Rico, Río Piedras Campus. His research focuses on understanding how mutations in noncoding sequences contribute to cardiovascular disease, or CVD. He uses machine learning to predict how these mutations can alter binding of transcription factors involved in heart development. To apply computational approaches to his research, he had to train preexisting software with publicly available genomic data sets for two to three years.

This work clears up a common misconception, Peña Martínez said. “Noncoding mutations are thought to be functionally silent and evolutionarily neutral, whereas coding mutations alter the structure and function of proteins.”

The paper reporting this research earned him a 2024 JBC Herbert Tabor Early Career Investigator Award.

“It is unusual to study mutations that occur in non-coding regions of the genome,” Peña Martínez said, “but more than 90% of the mutations associated with CVD are located in regulatory sequences like promoter or enhancer sequences, and not in coding sequences.”

Working in Puerto Rico, Peña Martínez said he must make a greater effort to plan experiments than his counterparts on the mainland. “It takes a longer time to receive reagents and equipment when you’re not in the U.S. mainland, and there are delivery issues,” he said. “You need patience because experiments will fail and it takes time to troubleshoot but, it does get better and you shouldn’t get discouraged.”

Peña Martínez trained as a certified life and leadership coach, perhaps in an effort to pay it forward, he said. He regularly gives talks and hosts workshops for students enrolled in public education. He said this is his way of motivating them to pursue a graduate degree in STEM. His goal is to become a professor at a research institution and continue mentoring students, specifically underrepresented minorities.

“As long as you’re curious and passionate about what you do and you’re ready to fail and to learn from failure,” he said, “it is possible to do this, and you will achieve your goal.”