#SCIENCE IN HUMAN GENOME
Our laboratory’s main scientific goal is to understand molecular mechanism of various human diseases. In doing so, we aim to unravel novel biological mechanism of genes and also identify clues to benefit patient treatment strategy. In pursuing the goals, we use various human genetics, molecular biology and model animal systems for efficient functional validations.
Rare Mendelian diseases poses substantial threat and burden to the patients, families and society. Yet the relative shortage of scientific and clinical interest has left many of the patients undiagnosed and untreated. We think that understanding rare diseases mechanism has provided opportunities to unravel important biological mechanisms and sometimes offers clues to further interrogate common diseases of similar disease spectrum.
Using next-generation sequencing technique, it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this technique, whole exome sequencing (WES) was first developed in 2009, and proved itself as a powerful tool to discover disease-associated genomic variants from human patients (Choi et al., 2009; Ng et al., 2009). Using WES and whole genome sequencing (WGS) as main tools, we aim to study a variety of human diseases to understand their genetic mechanisms. After the first successful NGS-based molecular diagnosis of a patient, we conduct genetic analyses of patients of various symptoms. Currently, we focus on two major patient groups – patients of neurodevelopmental disorders and immune-compromised symptoms.