If there is anything that Dr. Eva Cutiongco-de la Paz seems not to enjoy, it鈥檚 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.
鈥淚 was hoping nobody was there,鈥� she said, 鈥渁nd that nobody would recognize me when we were having our family picture taken at the Oblation Plaza.鈥�
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鈥檚 genetic diversity. When asked, she tends to downplay her role in each of them. 鈥淣one of these is just about me,鈥� she says.
There is, however, one topic that she talks about with pride. And that is her passion as a clinician-scientist.聽 Having fuelled a career that earned her an award for 鈥渟ustained contributions in the field of genetics,鈥� 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鈥檚 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鈥檚 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.聽 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鈥檚 well-being, it was cut short unexpectedly by the Great Hanshin Earthquake鈥擩apan鈥檚 second strongest in the 20th century. This coming before the age of social media, her survival was confirmed only after a nail-biting wait. 鈥淢y mother couldn鈥檛 eat for a few days, because she didn鈥檛 know if I was alive or dead,鈥� 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鈥檚 needs. But it was in this hospital that she got fully exposed to the grim consequences of what she called dysmorphology鈥攖he study of congenital anomalies, more commonly known as birth defects.
鈥溾�楳orph鈥� means form,鈥� she explained, 鈥渁nd 鈥榙ys鈥� means a deviation from usual form.鈥� Dysmorphic children, therefore, tend to possess genetic abnormalities that give them altered appearances when compared even to family members. 鈥淚 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.鈥�
Homecoming
Upon finishing her fellowship, Cutiongco-de la Paz came home and joined UP Manila Chancellor Carmencita Padilla, a geneticist herself, who actually served as her inspiration to get into the field of Genetics, in setting up comprehensive genetic services needed by the country. Together, they established a Clinical Genetics Fellowship Training Program at the PGH. This is the first and only one of its kind, teaching and training program in the subspecialty of Genetics in the country. The program is designed to provide the knowledge, understanding and skills required for the competent evaluation, management, genetic education and counseling of patients with genetic disorders and their families.
鈥淎nd what we did, because Dr. Padilla was trained in Australia and I trained in Canada, was to put our training programs together to get the best of both鈥�. They began opening the program to physicians willing to be trained in different clinical genetics sub-areas, from the laboratory to the counseling room. To date, they have graduated twelve clinical geneticists, with four more in training.
Around the same time, she made it a point to do research on more complicated illnesses that more commonly afflict Filipinos. Together with colleagues like Dr. Rey Garcia of the National Institute of Molecular Biology and Biotechnology, UP Diliman, they set out mapping genes and mutations in the population associated with colon cancer.
鈥淲hy do we need to study our population?鈥� she asked. 鈥淏ecause we鈥檙e seeing in research that even if we鈥檙e all part of the human race, our genetic makeup is unique compared to other population groups such as Chinese, Japanese and Americans. So we need to understand our uniqueness, 鈥榞enetically speaking鈥� to gain a better understanding of diseases that our common to our people.鈥�
A poignant condition highlighting our specificity is that of X-linked Dystonia Parkinsonism (XDP), locally known as lubag. This condition is, like DMD, caused by a mutation in a single gene in the X chromosome, and causes involuntary muscle contractions, dystonia, later on progressing to Parkinsonism. Dr. Cutiongco-de la Paz provides genetic education, testing and counseling to patients with XDP and their families. She teaches patients and their families about the genetic basis of XDP, counseling them on how it is passed on from one generation to the next, and finding support mechanisms for them to cope better.
鈥淲hat we want,鈥� she added, is to see families and help them deal with the diagnosis. Hopefully we can reach a diagnosis with the help of genetic tests. Then we can tell them what caused the condition. That it鈥檚 not about what they did or did not do.鈥�
鈥淭his is important,鈥� she said, especially here, where knowledge of genetics could be improved, 鈥渂ecause some mothers, they blame themselves for birth defects that their children have.鈥�
An empowered course
This year, Cutiongco-de la Paz can make this vision a reality. In addition to being recognized as an exemplary and ethical government employee via the Dangal ng Bayan Award, she also recently received a multi-million grant to set-up a shared genomics core laboratory at UP鈥檚 Philippine Genome Center (UP PGC). This next generation sequencing facility establishes a base for her and her colleagues to do more genomics research and provide affordable genetic screening services that tackles the diseases mentioned above and more.
She used Angelina Jolie鈥檚 story as an example of the power of genetic information. 鈥淗er mother died of breast and ovarian cancer. Her mother鈥檚 sister died of breast cancer, and her grandmother of ovarian cancer. They were all diagnosed with what we call hereditary breast-ovarian cancer before the age of 50.鈥�
鈥淪he had herself tested even before a cancer diagnosis and found she carried the gene. And she took an empowered course in life; she had a prophylactic mastectomy, so the cancer would not have tissue to grow on. That dramatically drops her risk of developing breast cancer.鈥�
Popularizing translational medicine, the science of bringing laboratory innovations to the bedside, is what she hopes this grant will enable her to do. 鈥淭hat means creating tools from what you find from research that ordinary Filipinos can use. Right now, the test for breast cancer genes, when sourced abroad, costs around US$3,000. But if we have the machines here, and the trained personnel to use them, we can offer those at an affordable price. And that鈥檚 what we want to do!鈥�
This year the 鈥揕ingkod Bayan, Dangal ng Bayan and Pag-asa ng Bayan awards. Deadline is end of March 2019.
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