PGHNEURO.COM

THE Philippine Genome Center is working to find out more about the gene that causes a progressive neurodegenerative disease that can only be traced to Filipino lineage.

This will provide a better understanding of the disease — called lubag among locals — and help determine the needed healthcare investments, according to project leader Eva Maria Cutiongco-de la Paz.

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease that shows as a movement disorder and has no cure. It is inherited by adult males with maternal ancestry from people on Panay Island in central Philippines.

Patients become more disabled and immobile as the disease progresses. XDP is a recessive disorder affecting males almost exclusively.

The loss of bodily control of XDP patients has given a scientific explanation to the aswang of Filipino folklore, which is visualized as a shape-shifting creature, Ms. De la Paz said.

“Any male anywhere in the world who presents with a combination of dystonia and parkinsonism is for sure a Filipino and has maternal origins in the Panay group of islands,” she told a news briefing on April 14.

“It is a huge burden… also to the families because of the loss of quality of life and productivity, stigma, and genetic transmission,” she said.

The actual disease frequency of XDP remains unknown.

“Our goal is to provide a comprehensive picture of the prevalence of the genetic cause of XDP in the country,” Ms. De la Paz said. “With this project, Filipinos can contribute to the global research efforts on a uniquely Filipino disease.”

DNA FORENSICS
Meanwhile, a medical expert said the Philippines has yet to fully maximize deoxyribonucleic acid (DNA) forensics for use in criminal investigation.

About 96% of cases litigated in Philippine courts are judged based on testimonial evidence, according to Ma. Corazon A. de Ungria, who leads the DNA Analysis Laboratory of the University of the Philippines-Diliman’s Natural Sciences Research Institute.

“We help the Philippine Supreme Court come up with rules on DNA evidence, so it’s a judicial rule,” she told reporters on the sidelines of the Genome Center event. “We still haven’t passed a DNA law for forensics.”

“DNA can provide that particular voice to be able to tell the world ‘I am a child. I am a violated person. I need help,’” said Ms. De Ungria, who also heads a project within the Filipino Genome research program that helps resolve child sexual abuse cases.

More researchers are needed in this field “to help us develop the technology even further — such that it would be quicker, and there would be minimal requirement for testimonies from very young children,” she added.

Genomics is the study of an organism’s complete genome, which carries its complete genetic material. The Philippine Genome Center was launched on Nov. 28, 2011.

“Research and development is critical to our ability in addressing the challenges of today and the unknowns of tomorrow,” Science and Technology Undersecretary Leah J. Buendia said.

Science and Technology Secretary Renato U. Solidum in his keynote speech cited how research could drive economic growth.

“We are confident that we can continue transforming scientific ideas from the laboratory into tangible innovation and development that benefit the lives of Filipinos,” he said. — Patricia B. Mirasol