By Angelica Y. Yang, GMA News

After discovering a new type of mutation in the DNA of Filipino glaucoma patients and following through with subsequent research on glaucoma, Pinoy ophthalmologist Dr Ryan Collantes was awarded the 2018 Dr. David L. Epstein award, an international accolade for clinician-scientists who are pursuing research on the disease.

Collantes and his mentor from Harvard Medical School, Dr. Janey Wiggs, will be receiving the award during the Association for Research in Vision and Ophthalmology (ARVO) annual meeting this April. Both Collantes and Wiggs will also be receiving a research grant of 100,000 USD from ARVO.

The ARVO describes itself as the largest and most well-respected eye and vision research organization in the world. It sponsors scholarships and research grants in the field of ophthalmology, such as the annual Dr. David L. Epstein Award.

A Flicker of Curiosity

Glaucoma is the leading cause of blindness worldwide, according to Glaucoma.org, a not-for-profit US organization dedicated to finding a cure to the disease.

The Philippine Glaucoma Foundation (PGF) describes glaucoma as a group of eye diseases that affect the optic nerve, which connects the eye to the brain. The main causes of glaucoma are high fluid pressures inside the eye, a family history of glaucoma, and old age. “If left untreated, it will result to permanent blindness. As of right now, there is no cure for glaucoma,” the PGF said.

Glaucoma.org recently reported that glaucoma is more prevalent among senior citizens. “You are six times more likely to get glaucoma if you are over 60 years old,” it said on its website.

Which is why, when Collantes met a 16-year old Filipino glaucoma patient during his residency at Manila Doctors’ Hospital (MDH), his curiosity was piqued.

“He came [to consult with us] because he had headaches and blurred vision. We determined that he was suffering from early-onset glaucoma, which is rare for his age group,” Collantes told GMA News Online in a phone interview.

“The patient also offered interesting history. Both of his siblings were blind in one eye each. His father was also blind. In his case, [Glaucoma] was a familial disease. I thought that there was a genetic component, because there was a strong penetrance of the disease,” Collantes recalled.

The clinician-scientist’s penchant for genetics goes way back in college; he graduated from the course BS Biology with a concentration in Genetics from the University of the Philippines-Los Banos (UPLB).

Driven by his innate curiosity and ardent desire to help the 16-year old patient, Collantes bought a plane ticket to visit the patient in his provincial hometown to learn more about the patient’s family history and genetics.

He only expected to see a few of the patient’s family members who were diagnosed with glaucoma, but Collantes ended up meeting over 50 family members who had juvenile open-angle glaucoma (JOAG), a rare condition in glaucoma patients.

Intrigued by this observation, Collantes collected blood samples from all of the family members, and went back to Manila to perform lab tests. He extracted the DNA from the blood samples, and analyzed them at the Philippine Genome Center.
The results showed a new type of mutation in the myocilin (MYOC) gene, which encodes myocilin proteins.

“This novel mutation causes the elongation of the [myocilin] protein and it has never been described before. The elongation is the mechanism by which the trabecular meshwork cells [in the eye] die, thus, causing glaucoma in affected family members,” Collantes explained.

Living the dream

Because of Collantes’ desire to find out more about the new mutation and help the patient’s family, he reached out to experts who were based in other countries.

Along the way, he met Dr. Janey Wiggs, an Ophthalmology professor and Associate Director of the Genetic Diagnostics Section at the Harvard Medical School.

After Collantes presented Wiggs with his findings on the remarkable pedigree of a Filipino family affected by JOAG, she took him as a postdoctoral fellow in 2016.

Right now, Collantes is living the scientist’s dream as he works as a research fellow at the Massachusetts Eye and Ear Center and the Harvard Medical School.

Asked about his progress on his research, he answered that he was able to demonstrate how the MYOC mutation causes glaucoma, through cell-based assays.

With funding from the David Epstein Award, Collantes, with the guidance of Wiggs, plans to work on the identification of mutations responsible for early-onset glaucoma in Filipino families as well as the development of methods for efficient genetic screening.

The award will also allow Collantes to pursue two more years of research.
Collantes confirmed that he would be coming back to the Philippines to visit more patients with glaucoma. It is in his hopes to give back to the country.

“I’m motivated to help these Filipino patients because there’s no cure for glaucoma. We don’t know what’s causing it. We know the genetic factors and molecular mechanisms in glaucoma, but we don’t know all of it,” Collantes explained.

For Collantes, a glaucoma patient who does not have the money and resources to get treated, undergoes a slow death sentence.

“These people [with glaucoma] think that they’re cursed. But through this scientific discovery, we proved that they aren’t [cursed]. I want to give patients hope. It means a lot to them that we’re looking into their situation. I want to genuinely look out for them,” Collantes said.— LA, GMA News

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