Medical Student Research Fellowship for Summer 2006

Mentor: Christine Kim Garcia, MD/PhD
Department: McDermott Center
Room number: NB10.210
Mail Code: 8591
Phone number: 87424
E-mail: Christine.garcia@utsouthwestern.edu
Project title: Familial pulmonary disorders

Human subjects IRB approved project number (where applicable): IRB #0203-110, 102004-029, 012005-050

Animal subjects IRB approved project number (where applicable): APN #1050-04-01-1

Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects)

Both patient-based research and basic research

Brief Description of Project:

My laboratory is studying the molecular basis of inherited pulmonary disease, such as familial spontaneous pneumothorax and familial pulmonary fibrosis. 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. Blood samples are collected from all willing participants. 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 this medical center for clinical pulmonary testing. Tests include spirometry, body plethysmography, diffusion capacity measurements, high resolution CT scans of the chest, and, in some cases, bronchoscopy with collection of bronchoalveolar lavage fluid. These clinical tests provided detailed pulmonary phenotyping of family members. 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 subjects and families with these disorders. Recently, we found nonsense mutations in the gene encoding folliculin in two families with only familial spontaneous pneumothorax. The clinically affected individuals have a number of pulmonary blebs or bullae (holes in the lung) that spontaneously burst to give rise to pneumothoraces (lung collapses). Previously, mutations in this gene were associated with Birt-Hogg-Dubé syndrome, a clinical syndrome characterized by multiple skin lesions, kidney cancer, and pneumothoraces. The function of folliculin in normal lung, skin, and kidney cells is unknown. Additionally, its role in the development of cancer cells is also unknown. In the laboratory we are currently using a combination of molecular, cell, and animal models to investigate the role of this protein.

Previous Research Activities or Publications with Medical Students:

I have worked with a number of undergraduate and medical students throughout the years. It would be my pleasure to do so again.

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