Featured article from the University of the Philippines Media and Public Relations Office.
Written by Andre DP Encarnacion, UP MPRO
If there is anything that Dr. Eva Cutiongco-de la Paz seems not to enjoy, it’s getting undue credit. The winner of the 2018 Dangal ng Bayan Award was admittedly nervous when her mother, a former faculty member at the UP College of Education, suggested having their photo taken with the tarpaulin celebrating her feat.
“I was hoping nobody was there,” she said, “and that nobody would recognize me when we were having our family picture taken at the Oblation Plaza.”
As far as her research is concerned, Cutiongco-de la Paz is quick to laud the contributions of her collaborators over her own. The clinical geneticist and current executive director of the National Institutes of Health (NIH) has certainly published on a broad range of subjects, from the genes implicated in rare diseases to our population’s genetic diversity. When asked, she tends to downplay her role in each of them. “None of these is just about me,” she says.
There is, however, one topic that she talks about with pride. And that is her passion as a clinician-scientist. Having fuelled a career that earned her an award for “sustained contributions in the field of genetics,” this passion involves using her knowledge of genes to provide accurate diagnoses of illnesses to families and managing their multidisciplinary care. This passion, which describes the field of clinical genetics in a nutshell, has shaped her character as a scholar, a teacher, and, most importantly, a healer.
Getting to this point was a journey that took Cutiongco-de la Paz nearly around the world. After surviving disasters abroad and receiving genetics training from some of the world’s top institutions, the pediatrician by training hopes that what she learned can now be used to help Filipinos and their families live healthier, more dignified lives.
Deviation from form
Graduating from the UP College of Medicine in 1989 was something Cutiongco-de la Paz thought would necessarily lead to a conventional career as a physician. An invitation to avail of a research fellowship at Kobe University’s Graduate School of Medicine in 1995, however, would change these plans forever.
While there, she had the opportunity to study a condition called Duchenne Muscular Dystrophy (DMD) in great depth. The disease is associated with a mutation in a gene on the X-chromosome and is mostly found in males. This mutation causes abnormalities in a protein called dystrophin in our muscles that makes them fragile and easily damaged. Afflicted children typically fall over and become wheelchair-bound. Since the heart and diaphragm consist themselves of muscle, those who fail to manage the illness typically die before age 30.
Although her stint in Kobe University introduced her to how deeply human genetics can influence a patient’s well-being, it was cut short unexpectedly by the Great Hanshin Earthquake—Japan’s second strongest in the 20th century. This coming before the age of social media, her survival was confirmed only after a nail-biting wait. “My mother couldn’t eat for a few days, because she didn’t know if I was alive or dead,” she recalled.
She decided instead on coming home, to develop her knowledge elsewhere. Cutiongco-de la Paz was accepted soon after for a fellowship in clinical genetics at the Hospital for Sick Children in Toronto, Canada. She said her initial plan was to study the genetics of infectious diseases, which seemed logical given the country’s needs. But it was in this hospital that she got fully exposed to the grim consequences of what she called dysmorphology—the study of congenital anomalies, more commonly known as birth defects.
“‘Morph’ means form,” she explained, “and ‘dys’ means a deviation from usual form.” Dysmorphic children, therefore, tend to possess genetic abnormalities that give them altered appearances when compared even to family members. “I got exposed to the clinics and I saw how the families needed help. With an appropriate diagnosis, you could actually provide them with the proper management.”