Rare Disease Genomics Research

Broad focus of the lab:  The broad focus of the lab is to understand the genetic architecture of dystonia and related movement disorders using advanced genomic approaches. Our research integrates next-generation sequencing technologies, including whole-exome, whole-genome, and long-read sequencing, to identify pathogenic variants and improve the molecular diagnosis of patients. We aim to combine genomic data with detailed clinical phenotyping to establish robust genotype–phenotype correlations. Ultimately, the goal of the lab is to enhance diagnostic yield, improve variant interpretation, and contribute toward precision diagnostics and better clinical management of dystonia.

Research methodologies used in the lab: 

• Whole-exome sequencing (WES)

• Whole-genome sequencing (WGS)

• Long-read sequencing for structural variant detection

• Bioinformatics and genomic data analysis

• Multi-omics approaches (future direction: transcriptomics and proteomics)