Natalia Audoriza Ibarra Cortés, BSc,MSc
重点领域
- 帕金森病的基因学
- 临床神经科学
- Family analysis
- Whole genome sequencing
- Neuroinflammation
- Ancestries
- Pedigrees
- Polygenic Risk Score (PRS)
个人简介
I am a physiotherapist with a background in technology management, currently pursuing a PhD at the Doctorado en Ciencias e Innovación en Medicina (DCIM), Universidad del Desarrollo, Chile. My doctoral research focuses on the combined contribution of rare and common genomic variant burden and peripheral inflammatory profile to phenotypic expressivity in Chilean families with Parkinson’s disease, using a family-based intrafamilial design. I work with Blended Genome Exome (BGE) sequencing, genetic ancestry characterization, and polygenic risk scoring in underrepresented Latin American population.