DF/HCC Program Affiliation

Kidney Cancer
Cancer Genetics

Research Abstract

My major research interest is tuberous sclerosis (TSC), a familial tumor syndrome affecting multiple organs. The goal of my TSC translational research program is to investigate novel therapeutic approaches for TSC using mouse models and translate these findings to patient care. A major ongoing project is a multi-center phase II clinical trial to evaluate the efficacy of sirolimus (rapamycin, Rapamune) for the treatment of kidney angiomyolipomas in patients with TSC and/or LAM. Previous work on TSC has included developing mutation analysis methods and genotype/phenotype studies.

Publications

• Lee L, Sudentas P, Dabora SL.Combination of a rapamycin analog (CCI-779) and interferon-gamma is more effective than single agents in treating a mouse model of tuberous sclerosis complex.Genes Chromosomes Cancer 2006 Jul 14.
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• Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ.Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.Am J Hum Genet 2002 Oct
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• Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of
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