Pamela Tran

Kidney Institute- Faculty
Anatomy and Cell Biology - Assistant Professor
Anatomy and Cell Biology

Ph.D. McGill University, Montreal, Canada
Post-doc. Brigham and Women’s Hospital/Harvard Medical School, Boston, USA


Research Focus

ciliopathies, cystic kidney disease, Hh signaling, retrograde intraflagellar transport, IFT complex A, THM1

My research focuses on the role of the primary cilium in development and disease. The primary cilium is a slender extension of the plasma membrane present on most vertebrate cells that acts as a sensoryorganelle and mediates signaling pathways.  Ciliary defects are linked to a growing class of human disorders termed ciliopathies, which affect multiple systems and can contribute to common illnesses such as cystickidney disease, retinal degeneration and obesity. The molecular events connecting cilia dysfunction to disease remain unclear.  We have identified a novel ciliary protein, THM1 (TPR-containing Hh modulator 1; also termed Ttc21b or IFT139), which negatively regulates Hh signaling. Genetic deletion of Thm1 during late embryogenesis results in renal cysts and retinal degeneration, while ablation of Thm1 during adulthood leads to increased body weight and overall growth.  Given the role of THM1 as a negative regulator of Hh signaling, we are investigating a possible role for enhanced Hh activity in these postnatal phenotypes.  In support of this hypothesis, cyst formation in an embryonic kidney explant assay was prevented by genetic deletion ofGli2, the main transcriptional activator of Hh signaling, and by treatment with small molecule Hh inhibitors.  Hh signaling remains largely unexplored in renal cystogenesis, retinal degeneration and obesity, and exploration of this pathway may reveal novel molecular mechanisms and therapeutic targets for these common illnesses.
Last modified: Apr 17, 2012

P Tran

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Pamela Tran
Kidney Institute- Faculty
Anatomy and Cell Biology - Assistant Professor

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