Research work centers on translational neurogenetics: understanding the genetic basis of neurological disease in Filipino patients specifically, and applying that understanding directly to clinical diagnosis and care. The aim is not research for its own sake, but research that informs how patients are evaluated, tested, and managed — and that helps build the infrastructure needed to sustain this kind of medicine locally.
Research Focus Areas
Stroke Genetics
Genetic contributions to early-onset and cryptogenic stroke, and to intracranial atherosclerosis, in Filipino patient populations.
Neurodegenerative Disease
Molecular genetics of neurodegenerative conditions, including Multiple System Atrophy, with a focus on variants and genes relevant to East Asian and Filipino populations.
Neuromuscular Disease
Genetic diagnosis of rare and hereditary neuromuscular conditions, including muscular dystrophies and hereditary neuropathies identified in Filipino families.
Long-Read Sequencing & Structural Variation
Application of long-read sequencing to repeat expansions and structurally complex genomic regions that are difficult to resolve with standard short-read methods.
Precision Medicine Implementation in the Philippines
Work on how genomic findings can be practically integrated into neurology practice in a low-resource setting — including testing strategy, interpretation pipelines, and health system considerations specific to the Philippines.
Translational Approach
Research and clinical work are treated as continuous, not separate activities. In practice, this means:
- Clinical phenotyping — careful, structured characterization of each patient’s presentation as the starting point for any genomic investigation
- Genomic testing strategy — matching the testing method to the phenotype and clinical question, rather than applying a single standard approach
- Data interpretation — careful, conservative interpretation of genomic findings, particularly for variants without established significance
- Collaboration with laboratories and institutions — work conducted with local and international laboratory and academic partners, given that testing infrastructure in the Philippines is still developing
- Returning knowledge to patient care and health systems — findings are intended to inform not just individual patient management, but how neurogenetic care can be structured more broadly in the Philippines
Capacity-Building Mission
Alongside the research questions themselves, a significant part of this work is oriented toward training the next generation of Filipino physician-scientists and building the laboratory and bioinformatics infrastructure that neurogenetics research requires locally. The fuller account of this mission — and why it matters — is on the About page.
Publications and Current Projects
A full list of publications and current research projects will be added to this section in a future update. In the meantime, referring physicians or collaborators interested in specific research areas or prior publications are welcome to reach out directly.