University of Philippines Manila

From a reluctant researcher to passionate human geneticist

June 30, 2019 — In observance of UP’s 111th founding anniversary with the theme Mahusay, Makabuluhan, Makakapwa, UP Manila held several activities highlighted by a lecture delivered by National Institutes of Health Executive Director Dr. Eva Cutiongco-de la Paz held on June 18, the actual founding day of UP.

Dr. de la Paz reflected on the theme in sharing how she became an accidental researcher and eventually an enthusiastic and dedicated human geneticist.

“My life plan was to be a doctor, which happened. I also wanted to take my PhD. I learned that PhD also meant panghabangbuhay na dalaga so I was ready to be that, too… but God has other plans.”

The recent Dangal ng Bayan awardee is a true-blue Iska (UP female student) who has been with UP for 43 years now since her UP Integrated School days. She went to 4 years of premedical course where she took BS Biology, 5 years of medicine proper, 3 years of pediatric residency, a year of chief residency, a year of research fellowship, and 2 years of subspecialty training fellowship until finally reaching clinical practice. She spent 16 years of studying and working hard to finally becoming a doctor for babies.

“In 1990, Wonder Woman (referring to UP Manila Chancellor Padilla) came home to the Philippines. She was the only trained clinical geneticist for 70 million Filipinos at that time and I was a resident in pediatrics. I had the first case of Maple Syrup Urine Disease at the PGH and I referred to the genetics subspecialty service. That was my first encounter with the Chancellor and the field of genetics,” she continued.

What Dr. Eva initially planned for herself was to teach and practice pediatrics until Dr. Carmelita Domingo and Chancellor Padilla exposed her to other possibilities and the world of genetics. “Looking back now, I am glad that I left that door open because I found out what was important and I could be part of building something,” she said.

“I really did not know about genetics at that time. I wanted to be a developmental pediatrician. So my early encounters with DNA sequences was in Kobe, Japan. I studied a disease that affects predominantly boys. The incidence is 1 in 3,000 boys. There is a defective gene on the X chromosome and these boys are born normal but when they are 13 years old, they’re on a wheelchair and they die prematurely at about 20 years of age because this gene affects muscle function.”

Not being able to speak Nihonggo and having no family in Japan, Dr. Eva’s first six months were difficult. In 1995, she survived a 7.2 magnitude earthquake that hit Kobe. “We packed our bags and went all the way to Osaka. Most of the train lines were down so we had to walk and ride a train for short distance, and then get off and walk again. At that time it was very difficult because we didn’t have food and water. There were fires breaking out in many different places. We even had to help in putting out fires in bucket relay. What it taught me was that even if I didn’t have food or water or I was away from my family, by God’s grace and protection, I am alive.”

Dr. Eva applied for a fellowship at the University of Toronto where she spent many days seeing patients and doing clinical work. After clinic hours, she requested her training officer more time on the bench in the molecular lab. “One of my professors allowed me to spend time in her laboratory. Those extra hours gave me opportunity to do research on two rare diseases, Costello Syndrome and Simpson-Golabi-Behmel Syndrome, syndromes my professor was working on. This resulted in two of my first publications as co-author of the paper.”

By that time, Dr. Eva was determined to come home even if there was an offer for her to be a staff in SickKids. “Many of the Canadians and Filipinos who lived in Canada told me that I am the only Filipino they know who wants to come home.”

Dr. Eva, indeed, came home and became part of the NIH Institute of Human Genetics, an institute that invites the community of health practitioners, researchers, and administrators, to participate in the promotion and development of the practice of genetics in the Philippines.
“I am thankful that the Chancellor has laid down the foundation for many of us in the genetics field to be able to practice our profession and be part of making a difference.”

Over the years, Chancellor Padilla and Dr. Eva wrote many grants together but also had many rejections. Dr. Eva reminded that “It is important that we accept rejections. Even with these rejections and negative results, it is important to be ready to move on.”

Since 2013, Dr. Eva has been visiting Roxas City, Capiz on a quarterly basis to see patients with X-linked dystonia-parkinsonism (XDP). The dilapidating disease is adult in onset and can start as a focal involuntary movement. She learned that many of the patients are concentrated in the Panay group of islands and all affected individuals are male, which means that any male in the world with a combination of dystonia and Parkinson’s for sure is Filipino and for sure has maternal ancestry from Panay island.

Dr. Eva emphasized, “There is no known cure yet for this disease that is why we Filipinos must be part of global research efforts to find a cure because this affects our people. We have to be aware of the big picture. Life is too short, we all should be ready to serve with honor and excellence.”

Her speech was followed by her lecture on Genomics in Modern Medicine.

In her message, Chancellor Padilla encouraged everyone to continue learning on their own regardless of their field. “The mere fact that you are in UP, you must be mahusay. But I want you to remember that without continuing education it is so easy to be old and obsolete.”

She added that to be makabuluhan, one has to always put and find meaning in what they do, and as for being makakapwa, it can be done even in the smallest ways and it can start here in UP.

The Chancellor also affirmed working closely with Dr. de la Paz on many things, such as putting up the fellowship program in genetics, the master’s program in genetics counselling, and setting up the molecular lab at the NIH. “She has built a name for herself, she has become a researcher of her own, and she has applied for huge grants that brought a lot of new things for the university.”

Other activities for the celebration were a historical walking tour, film showing of “All Grown Up” a movie that tackles mental health, dance fitness, and a yoga session for all students and staff of the university.

Anne Marie Alto | Published in UP Manila Healthscape May – June 2019