The objectives of this Career Development Program in the Genetics and Genomics of Lung Diseases entitled """"""""Genetic Basis of Inflammatory Airway Disease"""""""" are to develop and evaluate a multidisciplinary program that will educate young pulmonary investigators in methods of genetics and genomics to become independent investigators and assume leadership roles in the genetics and genomics of pulmonary diseases. The central focus of this program, inflammatory airway disease, including asthma, cystic fibrosis, and chronic obstructive pulmonary disease, reflects the importance of understanding diverse, complex pulmonary diseases characterized by airway inflammation and exploits the strong commitment of the faculty at Washington University to apply methods in genetics and genomics to investigation of the biological basis of this family of lung diseases. The first year curriculum will include: 1) the established Genetic Epidemiology Masters of Science (GEMS) Training Program sponsored by the Division of Biostatistics;2) a mentored research experience to insure submission of a manuscript for publication by the summer of the second year;3) 3 month educational immersion experiences with established pulmonary and genomic teams of investigators;4) relevant, ongoing conferences, journal clubs, lectures, and courses;and, 5) the NHLBI sponsored Programs for Genomic Applications Traveling Tutorial. The second and third year curriculum will include: 1) continuation of the mentored research experience;2) additional courses;and, 3) submission of a K Award application.
The specific aims of this application include: ? Specific Aim (1): We will provide fundamental training in genetic epidemiology and biostatistics with emphasis on translational research. ? Specific Aim (2): We will provide extensive mentoring to the trainees for career development and for developing independent research plans that focus on pulmonary disorders. ? Specific Aim (3): We will support trainees by helping them prepare independent career development research grants such as KO8 and K23 Awards and by taking full advantage of the extraordinary resources of the participating mentors and institutional environment. ? Specific Aim (4):We will develop and implement plans for evaluating and tracking the effectiveness and success of these efforts for each trainee up to 2 years after completion of the program. This career development program will train young scientists to use state of the art methods in genetics and genomics to develop new diagnostic and therapeutic strategies for asthma, cystic fibrosis, and COPD.

National Institute of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Physician Scientist Award (Program) (PSA) (K12)
Project #
Application #
Study Section
Special Emphasis Panel (ZHL1-CSR-A (S1))
Program Officer
Colombini-Hatch, Sandra
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Washington University
Schools of Medicine
Saint Louis
United States
Zip Code
Chen, Yu-Jun; Wambach, Jennifer Anne; DePass, Kelcey et al. (2016) Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World J Pediatr 12:190-5
Jackson, T; Wegner, D J; White, F V et al. (2015) Respiratory failure in a term infant with cis and trans mutations in ABCA3. J Perinatol 35:231-2
Wambach, Jennifer A; Casey, Alicia M; Fishman, Martha P et al. (2014) Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med 189:1538-43
Kozel, Beth A; Su, Chi-Ting; Danback, Joshua R et al. (2014) Biomechanical properties of the skin in cutis laxa. J Invest Dermatol 134:2836-8
Wambach, Jennifer A; Wegner, Daniel J; Heins, Hillary B et al. (2014) Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr 164:1316-21.e3
Kozel, Beth A; Bayliss, Susan J; Berk, David R et al. (2014) Skin findings in Williams syndrome. Am J Med Genet A 164A:2217-25
Kozel, Beth A; Danback, Joshua R; Waxler, Jessica L et al. (2014) Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1. Hypertension 63:74-9
Coghlan, Meghan A; Shifren, Adrian; Huang, Howard J et al. (2014) Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ Open Respir Res 1:e000057
Wambach, Jennifer A; Wegner, Daniel J; Depass, Kelcey et al. (2012) Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics 130:e1575-82
Sugitani, Hideki; Hirano, Eiichi; Knutsen, Russell H et al. (2012) Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem 287:22055-67

Showing the most recent 10 out of 13 publications