Christine Kim Garcia, MD/PhD
McDermott Center for Human Growth & Development
Department of Internal Medicine/Pulmonary

The goal of my laboratory is to discover the major genetic underpinnings of pulmonary disorders, including adult-onset pulmonary fibrosis and spontaneous pneumothorax, a rare form of emphysema. Patients and families with these disorders are either referred for study or identified from subjects seen at the hospitals and clinics affiliated with UT Southwestern. We have two ongoing studies through the GCRC (General Clinical Research Center) in which families with affected and at-risk related individuals are invited to the medical center for clinical tests including spirometry, body plethysmography, diffusion capacity measurements, high resolution CT scans of the chest, and bronchoscopy with collection of bronchoalveolar lavage fluid. These clinical tests provided detailed phenotyping of subjects. Samples of blood, cells, and DNA are collected and saved to support basic science laboratory research of these disorders.

We are using genetic approaches, such as candidate gene screening and whole genome-wide linkage scans, to characterize kindreds with these disorders. Recently, we have found genetic linkage of pulmonary fibrosis to chromosome 5p15 and have described multiple mutations in telomerase reverse transcriptase (TERT) in individuals with inherited or sporadic IPF, idiopathic pulmonary fibrosis. Understanding how telomerase dysfunction can lead to increased susceptibility to this deadly disease is a current focus of the laboratory.