Toni Bartling (PhD Graduate Student)
Pediatric Pulmonology Drumm Lab
Genetics Department
B.S. in biology from University of Nebraska (1999)
M.S. in biology from University of Nebraska (2002)
Research Interest: I am investigating the role of histone acetylation in the regulation of transcription from inflammatory gene loci. I hypothesize that the environment in the CF lung leads to increased levels of histone acetylation at NF-KB responsive promoters. Increased levels of histone acetylation at these loci correspond to increased levels of transcription, and in part could explain the exaggerated levels of inflammatory proteins seen in the CF lung.
Rebecca Darrah, MA MS (PhD Graduate Student)
Pediatric Pulmonology Drumm Lab
Genetics Department
B.S. in biochemistry from College of Wooster (1993)
M.S. in bioethics from Case Western Reserve University (1998)
M.S. in Genetic Counseling from Case Western Reserve University (2000) – board certified from the American Society of Medical Genetics as a genetic counselor.
Research interest: I am studying the relationship between variation in the endothelin receptor gene and severity of cystic fibrosis pulmonary disease. This is part of a larger effort to identify genetic modifiers of CF disease course with the hopes to improve understanding of the disease and identify possible therapeutic targets.
Antoinette Hillan (PhD Graduate Student)
Pediatric Pulmonology Drumm Lab
Genetics Department
B.A. in biology from Hollins University (2000)
Research Interest: The Drumm lab is involved in the Genetic Modifier Study (GMS), which is a large multi-center study designed to identify genetic modifiers of CF. As a result of the GMS, variants in the interleukin-8 (IL8) gene have shown a statistically significant association with CF pulmonary disease severity. The objective of my project is to determine if the observed association is due to differences in IL-8 mRNA expression or protein function.
Mary Manson (PhD Graduate Student)
Pediatric Pulmonology Kelley Lab
Chemistry Department
B.S. in chemistry from Mount Vernon Nazarene University (2004)
M.A. in bioethics from Case Western Reserve University (2006)
Research Interest: I am investigating the role of the cAMP pathway in regulating cholesterol metabolism in Cystic Fibrosis. It has been shown that cystic fibrotic cells have higher levels of cholesterol both intracellularly and in the plasma membrane as compared to healthy cells. It is hypothesized that this is mostly due to abnormal cAMP pathway signaling in response to lost CFTR function.
Cynthia Perrine (PhD Graduate Student)
Pediatric Pulmonology Gerken Lab
Chemistry Department
A.S. in Physics from Butler County Community College (1999)
B.S. in Chemistry from Youngstown State University (2002)
M.S. in Chemistry from Youngstown State University (2004)
Research Interest: Glycoproteins which contain heavily O-glycosylated mucin domains play important biological roles, i.e., protecting cell surfaces, modulating cell-cell interactions, targeting proteins, regulating inflammatory and immune responses, and also as tumor antigens. The first step in mucin -type O-glycosylation is initiated by a large family of ppGalNAc transferases (> 16 members) by adding a-GalNAc to Ser or Thr residues of the peptide core. Inactive mutations in the fly pGANT35A (the T11 homologue in mammals) are lethal in the fly due to the disruption of the tracheal tube structures, while inactive human mutations in T3 have been associated with familial tumoral calcinosis, the result of the abnormal processing and secretion of the phosphaturic factor FGF23. Very recently, mutations in T5, T10, and T12 have been linked to families with colon cancer. My projects include the development of two new methods for determining the glycopeptide substrate specificities of ppGalNAc T1, T2, and T10 which will also assist in the evaluation of other transferases. I am also characterizing the glycopeptide substrate preferences of the Core 1-b1,3-galactosyltransferase which catalyzes the transfer of galactose from UDP-a-galactose to a-GalNAc1-Ser/Thr forming b-Gal (1-3) a-GalNAc-O-Ser/Thr. Studies on this specific transferase are very important as its loss of function is associated with Tn syndrome, IgA nephropathy, and colon and breast carcinomas; its ablation is also found embryonically lethal in the mouse. These studies will provide novel information defining the roles of local peptide sequence and neighboring glycosylation in O-glycan biosynthesis.
Wenchao Sun (PhD Graduate Student)
Pediatric Pulmonology Davis Lab
Biochemistry Department
B.S. in Biological Science from Tsinghua University, Beijing, China (2005)
Research interest: Non-viral vector based DNA nanoparticles are useful weapons of gene therapy aimed to rectify genetic diseases such as Cystic Fibrosis. One formula of current DNA nanoparticles consists of plasmid DNA compacted with polylysine chain of certain length covalently coupled to polyethylene glycol (PEG). This version of DNA nanoparticles is proven to be more stable than the earlier generation formed in high salt. Further improvement could result in targeted and more efficient gene transfer which could allow lower does to give similar results. My current project is focused on the generation of targeting DNA nanoparticles using bifunctional PEG. We use a ligand for the serpin-enzyme complex receptor (SEC-R) as prototype. Targeting effect of these particles will be tested in cell culture and in mice. Once the strategy for ligand addition is established, other ligands could be substituted and tested, and may present opportunities for targeting genes into new tissue types.
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