Richard T. Libby, Ph.D.

Richard T. Libby, Ph.D.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 659
Rochester, NY 14642

Research Bio

Research Overview
Glaucoma is a complex group of diseases where many different genetic and environmental factors conspire to cause vision loss. While there are many different causes of glaucoma, the ultimate cause of vision loss in all glaucomas is the death of retinal ganglion cells (RGCs), the output neurons of the retina. Therefore, glaucoma is a neurodegeneration. Our lab focuses on the neurobiology of glaucoma. Primarily, we use mouse models of glaucoma and advanced mouse genetics to probe the pathophysiology of glaucoma. Specifically, we are interested in understanding the molecular processes that lead to RGC death in glaucoma and why are RGCs more likely to die in some patients than in others.

Cell Death Pathways Active in Glaucoma
To date, no molecules are known to be necessary for glaucomatous neurodegeneration nor has the initial molecular trigger(s) been identified. Identifying the molecular pathways required for RGC death in glaucoma will answer fundamental questions about neuronal pathophysiology and will identify potential therapeutic targets for the treatment of optic neuropathies. To determine the molecular degeneration cascades active in glaucoma we are taking two approaches. (1) Candidate gene analysis. The neurotrophic deprivation pathway (as one example) has been implicated as a critical pathway for glaucomatous RGC death. At both the protein and RNA level, we found that components of this pathway (e.g. BIM, JUN, and JNKs) are present in glaucomatous DBA/2J mice, suggesting that this pathway contributes to RGC death. Currently using our knowledge of the key mediator of somal apoptosis in DBA/2J glaucoma (BAX activation) and the other molecules that have been impacted in glaucoma, we are attempting to 'back track' our way up the RGC degeneration pathway. Eventually we hope this approach will lead to a complete identification of the somal and axonal degeneration pathways and to the initial molecular trigger(s) in glaucoma. (2) Genomic analysis. We are also using microarray analysis to investigate DBA/2J glaucoma. Microarray analysis has the potential to identify molecules involved in glaucomatous neurodegeneration that could not be predicted from current knowledge. In these experiments, gene expression changes at various, distinct stages of DBA/2J glaucomatous neurodegeneration are being examined.

Neuronal Susceptibility Factors
Elevated intraocular pressure is the best known risk factor for glaucoma. However, there is extensive patient variability in what constitutes pathogenic intraocular pressure (IOP), suggesting that other susceptibility factors are important in glaucoma. Therefore, even though glaucoma is clearly associated with IOP, susceptibility factors intrinsic to the RGCs and/or other retinal cells are likely critical mediators of glaucomatous neurodegeneration. We are attempting to define the genetic susceptibility factors that conspire with IOP to determine the probability of developing glaucoma and/or the severity of glaucoma. For instance we have shown that deficiencies in BAX gene dosage (a key molecule in the glaucomatous RGC degeneration pathway) can slow RGC loss in glaucomatous mice. These data suggest that allelic differences in components of the RGC degeneration pathway may contribute to glaucoma pathology. Also, we have been addressing the effect of blood pressure on glaucoma by backcrossing a null allele of angiotensin receptor 1 (Agtr1; deficiency in Agtr1 lowers blood pressure in mice) into DBA/2J. Low blood pressure in DBA/2J mice significantly increases the rate of glaucomatous neurodegeneration. Therefore, it appears that many diverse genetic factors can contribute to glaucomatous neurodegeneration and that the DBA/2J mouse is an effective tool in identifying these factors.

Awards & Honors (Local)

Shaffer Prize for Research | Glaucoma Research Foundation 2017
University of Rochester School of Medicine & Dentistry Trainee Academic Mentoring Award in Basic Science. 2013
Research to Prevent Blindness Career Development Award. 2006 - 2010
David Bryant Trust. Unlocking Mechanisms Behind Vision Loss in Glaucoma. 2005
Lewis Rudin Glaucoma Prize. Awarded by The New York Academy of Medicine for the "most outstanding article on glaucoma published during the previous year". First author of article. 2004
Donald J. White Teaching Excellence Award. Awarded four times for my work as a teaching assistant in the lecture course, Introduction to Biology, Boston College. 1993,1995,1996,1997 1993 - 1997

Recent Journal Articles

Showing the 5 most recent journal articles. 61 available »

2016 Dec 6
Majumder S, Zhu G, Xu X, Senchanthisai S, Jiang D, Liu H, Xue C, Wang X, Coia H, Cui Z, Smolock EM, Libby RT, Berk BC, Pang J. "G-Protein-Coupled Receptor-2-Interacting Protein-1 Controls Stalk Cell Fate by Inhibiting Delta-like 4-Notch1 Signaling." Cell reports. 2016 Dec 6; 17(10):2532-2541.
2016 May
Hedberg-Buenz A, Christopher MA, Lewis CJ, Fernandes KA, Dutca LM, Wang K, Scheetz TE, Abramoff MD, Libby RT, Garvin MK, Anderson MG. "Quantitative measurement of retinal ganglion cell populations via histology-based random forest classification." Experimental eye research. 2016 May; 146:370-85. Epub 2015 Oct 22.
2016 Mar
Fernandes KA, Bloomsburg SJ, Miller CJ, Billingslea SA, Merrill MM, Burgess RW, Libby RT, Fuerst PG. "Novel axon projection after stress and degeneration in the Dscam mutant retina." Molecular and cellular neurosciences. 2016 Mar; 71:1-12. Epub 2015 Dec 10.
2016 Jan 27
Alavi MV, Mao M, Pawlikowski BT, Kvezereli M, Duncan JL, Libby RT, John SW, Gould DB. "Col4a1 mutations cause progressive retinal neovascular defects and retinopathy." Scientific reports. 2016 Jan 27; 6:18602. Epub 2016 Jan 27.
2015 Dec
Fernandes KA, Harder JM, Williams PA, Rausch RL, Kiernan AE, Nair KS, Anderson MG, John SW, Howell GR, Libby RT. "Using genetic mouse models to gain insight into glaucoma: Past results and future possibilities." Experimental eye research. 2015 Dec; 141:42-56. Epub 2015 Jun 24.

Current Appointments

Associate Professor - Department of Ophthalmology (SMD) - Primary
Associate Professor - Department of Biomedical Genetics (SMD)
Associate Professor - Center for Visual Science A&S (RC)


Doctorate in Biology | Boston College1997
Postdoctoral Fellow | Attended 2001 - 2005
Postdoctoral Scientist | Attended 1998 - 2001
Bachelor of Science in Biology | Villanova UniversityAttended 1986 - 1990
Assistant Professor | Attended 2006 - Present

Post-Doctoral Training & Residency

Postdoctoral Fellow in Dr. Simon John's Laboratory. The Jackson Laboratory, Bar Harbor, ME. Neurodegeneration in Glaucoma. 2005