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Graduate Students

Zainab Afzal

The Hox cluster of genes play important roles during development by assigning anterior-posterior identity to developing cells and organs along the embryonic axis. Recent research has indicated another layer of complexity for Hox complexes. It involves the presence of a large number of non-coding RNA transcripts that are embedded within and adjacent to clusters of the Hox genes. These lncRNAs have been mapped to specific positions, are expressed at high levels which correlate with the timing of expression of Hox coding regions, and are often associated with epigenetic changes in chromatin states in the Hox clusters. My research project involves the functional characterization of some lncRNA transcripts that our lab has identified within the Hox clusters."

Bailey Allard

Primary cilia are hair-like projections that extend from the surface of most vertebrate cells. Although primary cilia were once thought to be vestigial organelles, it is now known that they function as signaling organelles responsible for sensing cues from the extracellular environment. Defects in primary cilia cause diseases collectively termed "ciliopathies", which can manifest retinal degeneration, renal cysts, and obesity. My project focuses on expanding our knowledge of the ciliary proteome and molecular mechanisms underlying abnormal cilia function.

Everett Hall

Craniofacial and neural tube defects (NTDs), combined, are present in over a third of congenital malformation cases. Clefts of the lip and palate and NTDs like anencephaly occur in 1/700 and 1/5000 live births, respectively. Anencephaly is a condition where the brain develops outside of the skull (also termed exencephaly) and eventually degenerates. The genetic etiologies of these defects are heterogeneous, so there is a continued need to identify genes that influence the underlying pathogenetic mechanisms. Heterozygous mutations in SPECC1L have been identified in patients with atypical and syndromic orofacial clefts. Utilizing mice to model SPECC1L deficiency, the goal of my research project focuses on elucidating the role of Specc1l in craniofacial morphogenesis and neural tube closure.

Cassandra Johnson

I am studying the progression of atherosclerosis in the setting of chronic kidney disease (CKD). We are specifically interested in the role the intestinal microbiome byproduct trimethylamine N-oxide (TMAO), may be playing in disease progression. Recently, studies have shown high serum TMAO levels correlated with adverse cardiovascular events in non-CKD patients. As TMAO is filtered by the kidneys, we published a paper showing that as a CKD patient's kidney function worsens their serum TMAO levels rise. Additionally, the increased serum TMAO levels correlated with increased atherosclerotic plaque burden. We are first working to develop a model of CKD related atherosclerosis that does not require genetic deletion, as this will better portray disease progression in humans. Upon development of this model, we will decrease serum TMAO levels, and determine whether this decreases atherosclerotic plaque burden. 

Xuanying Li

Histone modifications, such as acetylation and ubiquitination, play a key role in facilitating a number of cellular events, including gene regulation. My research project focuses on the role of transcription coactivator SAGA (Spt-Ada-Gcn5 acetyltransferase) in early Drosophila embryonic development and transcription. In this study, I will investigate the molecular mechanisms of transcription regulation by SAGA and its deubiquitinase module.

Jacob New

Head and neck squamous cell carcinoma can consist of up to 80% fibroblasts, and we do not yet understand what their role is in tumor formation and progression. As such, I am researching the molecular biology of the tumor microenvironment to improve treatments in a disease that has a less than 50% 5-year survival. Namely, I am working on paracrine signaling between the tumor and the tumor-associated fibroblasts, as well as the role of autophagy in tumor progression. Also, on the other side of the research spectrum, I am interested in preventing and treating cancer with nutraceuticals, and we have ongoing trials with a novel nutraceutical for the prevention and treatment of head and neck cancers.

Sara Pearson

The female reproductive system is the first to age in the human with a decline of fertility beginning at 35 years old. Women of advanced reproductive age have difficulty conceiving, and a higher risk of miscarriage, birth defects, and twinning. This problem is significant because worldwide trends show that women are waiting longer to have their first child. We hypothesize that altered intra-oocyte protein synthesis during oogenesis underlies the reproductive age associated decline in gamete quality. My project aims to mitigate the effects of reproductive aging by stimulation of the mTOR pathway. I am using an in vitro alginate based culture system to mature follicles in the presence of L-Leucine, an amino acid known to activate the mTOR pathway

Sandipto Sarkar

Stephen Shannon

I first became interested in neural crest cells in learning how a mutation in a gene, such as Tcof1, can give rise to a complex phenotype like TreacherCollins. My project in the lab focusses on identifying the localization of the treacle phosphoprotein in mouse embryos from e7.5 to e11.5.

Luciane Silva

Primary cilia are sensory organelles that are present in most vertebrates cells. Hedgehog pathway is dependent upon the primary cilia to be activated and is up regulated in a few cancer types. Defects in primary cilia have been associated with renal cystogenesis. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common genetic diseases, affecting 1:500 people worldwide. It is characterized by the presence of fluid filled cysts in the kidneys. ADPKD does not have an approved therapy in the United States. My project is to investigate if there is a role for Hedgehog pathway in ADPKD. If my project is successful Hedgehog might be a target for ADPKD therapy.

Wei Wang

Wei Wang 

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of fluid-filled renal cysts, representing the most common inherited kidney disorder. Approximately, 90% of ADPKD patients have mutations in PKD1 and PKD2 genes, which encode proteins that localize to primary cilia, an organelle that regulates signaling cascades and has been proposed as a mechanosensor, indicating a role of primary cilia in the progress of PKD. However, the molecular mechanisms connecting cilia function to PKD have not been understood. Therefore, my project will focus on ciliary genes which encode intraflagellar transport (IFT) complex and their contribution to the progress of polycystic kidney disease.

Nathan Wilson

Broadly, my project is focused upon furthering our understanding of how the disruption of intracellular signaling affects craniofacial development. Mutations affecting multiple signaling pathways cause defects in this milieu, resulting in common and frequently intractable deformities, such as orofacial clefting. Specifically, I investigate the role played by a cytoskeletal protein, SPECC1L, in regulating AKT signaling in cranial neural crest cells, throughout maxillomandibular development.

Last modified: Sep 28, 2018