Medical Student Research Fellowship for Summer 2011
Mentor: Christine Kim Garcia, MD/PhD
Department: McDermott/Internal Medicine
Room number: NA2.206
Mail Code: 8591
Phone number: 87424
Project title: The Molecular basis of Pulmonary Fibrosis
Human subjects IRB approved project number (where applicable): 0203-110
Animal subjects IRB approved project number (where applicable):
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)
Brief Description of Project:
Idiopathic pulmonary fibrosis (IPF) is the prototype of a group of progressive diseases affecting older adults characterized by irreversible, lung scarring and a life expectancy of 3 years. Successful treatment of IPF will require a better understanding of disease pathogenesis, better tools to detect individuals at-risk for the disease and new targets for therapeutic intervention. Recent clues as to the genetic underpinnings of this disorder came from our identification of mutations in the genes encoding telomerase and surfactant protein A in a subset of families with autosomal dominant pulmonary fibrosis. This summer we will be collecting blood samples from kindreds with the familial subtype of disease and patients with various interstitial lung diseases. The student will be assist with the molecular characterization of this cohort.
Previous Research Activities or Publications with Medical Students:
Alberto Diaz de Leon, Doris Duke student 2009-2010, after 4th year of medical school:
Diaz de Leon, A., Cronkhite, J. T., Katzenstein, A.-L., Godwin, J. D., Raghu, G., Glazer C. S., Rosenblatt, R. L., Girod, C. E., Garrity, E. R., Xing, C. and Garcia, C. K. Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations. PLoS One, accepted.
Ji (Erica) Han, MS1, Summer 2009
Arhaanth Reddy, MSI, Summer 2008
Randall Graham, MSI, Summer 2007
Phillip Kuan, Doris Duke student 2005-2006, between 2nd and 3rd year of medical school:
Tsakiri, K.D., Cronkhite, J.T., Kuan, P.J., Xing, C., Raghu, G., Weissler, J.C., Rosenblatt, R.L., Shay, J.W., and Garcia, C.K. (2007) Adult-Onset Pulmonary Fibrosis Caused by Mutations in Telomerase. PNAS, 104: 7552-7557.
Wang, Y., Kuan, P. J., Chao, X., Cronkhite, J. T., Torres, F., Rosenblatt, R. L., DiMaio, J. M., Kinch, L. N., Grishin, N. V. and Garcia, C. K. (2009) Genetic Defects in Surfactant Protein A2 Associated with Pulmonary Fibrosis and Lung Cancer. American Journal of Human Genetics, 84(1): 52-59.
Randall Graham 2004-2005:
Graham, R.B., Nolasco, M., Peterlin, B. and Garcia, C.K. (2005) Nonsense Mutations in Folliculin Presenting as Isolated Spontaneous Pneumothorax in Adults. Am. J. Resp. Crit. Care Med., 172:39-44.
Bala Sambandam, MSI, Summer 2004