I am currently working on several research projects in the Dr. Charles Lee lab. One of the projects is to identify and characterize genetic aberrations associated with congenital diaphragmatic hernia (CDH). CDH is a defect in the diaphragm that allows the stomach and intestines to move into the chest cavity and cause underdevelopment of the lungs. The incidence of CDH is approximately 1 in 2,500 newborns. More than 80 percent of the patients are not associated with any known genetic syndrome, and the underlying mechanisms for their conditions remain unknown. We have designed a customized high-resolution genome-wide microarray to detect genetic aberrations from congenital diaphragmatic hernia (CDH) patient samples. We are currently running this array platform on the CDH patients and control samples, and analyzing the data. Eventually, we envision a CDH-specific diagnostic array that can be used for studying different CDH cohorts. Another project is to design and optimize genomic structural variation analysis platforms. These platforms will be implemented to detect and analyze chromosomal imbalances for whole genome array comparative genomic hybridization (aCGH) and single nucleotide polymorphisms (SNP) microarray-based technologies.

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