Back to Main

Faculty Detail    
Associate Professor
Campus Address KAUL 640A Zip 0024
Phone  (205) 934-2794
Other websites

Undergraduate  Texas A&M    1993  BS Genetics 
Graduate  University of Pennsylvania    1999  PhD Cell and Molecular Biology 

Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Genetics   Genetics Research Div Associate Professor
Center  Comprehensive Cancer Center  Comprehensive Cancer Center Associate Professor

Graduate Biomedical Sciences Affiliations
Genetics and Genomic Sciences 
Integrative Genetics Graduate Program 

Biographical Sketch 
Texas A&M University BS 1993 Genetics University of Pennsylvania PhD 1999 Cell and Molecular Biology Baylor College of Medicine Postdoc 2000-2003 Molecular and Human Genetics NHGRI, NIH Postdoc 2004-2005 Human Development

Research/Clinical Interest
Drug Discovery for Neurofibromatosis
NF1 is a neurological genetic disorder that occurs in ~1:3500 births caused by mutations in the neurofibromin gene (NF1) on chromosome 17. NF1 is characterized primarily by benign tumors that form along the nerves anywhere in the body, called neurofibromas. The NF1 phenotype is diverse and variable, even within the same family with the same mutation. Individuals with NF1 may develop learning disabilities, macrocephaly, optic glioma, disfigurement, congenital abnormalities of the bone, scoliosis, and/or hypertension, and are at increased risk of developing malignant tumors. While the NF1 gene is a classic tumor suppressor with mutation of both alleles leading to tumor formation, the mechanisms involved in tumorigenesis are still poorly understood. Notably, one of the protein’s functions is to inhibit the RAS signaling pathway, which when left unchecked results in cellular over-proliferation and tumor formation. As such, NF1 is one of several disorders termed “RASopathies.” Despite the relatively high prevalence, there are no effective therapeutics, but treatments currently in clinical trials involve MEK and other RAS pathway inhibitors. Our current research at UAB involves exploring developmental and potentially curative therapies to address the underlying genetic abnormalities of Neurofibromatosis type 1. We are working with multi-disciplinary research teams to identify which gene therapy techniques are most promising. My laboratory is currently focused on establishing predictive animal and cell culture model systems to look at the function of the NF1 gene and specific patient mutations. The cell models will be utilized to develop screens to identify drugs to treat NF1. Mouse models will also be utilized to better understand both the function of NF1 and as preclinical models to test new drug therapies.

Selected Publications 
Publication PUBMEDID
Complete List of Published Work in MyBibliography:

Drug discovery, neurofibromatosis, tissue culture, stem cells, animal models