Jun Qu, PhD, and Michael H. Farkas, PhD.

Jun Qu, PhD, left, and Michael H. Farkas, PhD, are funded by the National Institutes of Health to study novel treatment targets for retinitis pigmentosa.

Farkas Study Focuses on Retinitis Pigmentosa Treatment Targets

Published April 20, 2018

Michael H. Farkas, PhD, assistant professor of ophthalmology, has been awarded a five-year, $1.6 million grant from the National Institutes of Health to study potential treatment strategies for retinitis pigmentosa.


Currently untreatable, retinitis pigmentosa is a genetic disorder of the eyes that involves a breakdown and loss of cells in the retina.

Seeking Alternative Gene Therapy Strategy

The study proposes to characterize the function and test the therapeutic potential of a novel small isoform of the Retinitis Pigmentosa 1 (RP1) gene.

“In this study, we propose to develop a novel gene therapy strategy for RP1-associated RP based on our comprehensive RNA sequencing-based transcription studies of the human and mouse neural retina,” Farkas says.

If successful, it could lead to development of an alternative gene therapy strategy for RP1-associated retinitis pigmentosa and provide a prototype for gene therapy for large genes with several alternative transcripts.

Most Common Type of Inherited Retinal Dystrophy

Farkas says inherited retinal dystrophies (IRDs) are associated with a wide range of phenotypes affecting individuals from early childhood to late adulthood.

Retinitis pigmentosa, the most common IRD, is characterized by progressive retinal degeneration, often leading to complete loss of vision.

Currently, 60 genes have been identified to harbor mutations that lead to RP. Mutations in the RP1 gene are the third most common cause of RP.

RP1 is a microtubule associated protein that localizes to the axoneme of photoceptor outer segments and mutations in RP1 cause both autosomal dominant and autosomal recessive RP via a dominant negative mechanism, Farkas says.

“These properties make RP1 an attractive target for gene therapy,” he notes.

Novel Small Isoform of RP1 Gene at Center of Research

Specific aims of the study are:

  • to determine the localization and function of RP1 in vitro and in vivo
  • to generate and select an optimal RP1 transgenic mouse line
  • to determine the therapeutic potential of RP1 in vivo

Study a Collaboration With Harvard Medical School

Co-investigators on the study are:

  • Qin Liu, MD, PhD, of Harvard Medical School’s Massachusetts Eye and Ear
  • Jun Qu, PhD, associate professor of pharmaceutical sciences in UB’s School of Pharmacy and Pharmaceutical Sciences

Farkas has expertise in areas including bioinformatics, eukaryotic pathogenesis, gene expression, gene therapy, genomics and proteomics, molecular and cellular biology, molecular basis of disease, molecular genetics and stem cells.

He joined the Jacobs School of Medicine and Biomedical Sciences faculty in 2016. He came to UB from Harvard Medical School, where he was an instructor of ophthalmology. Farkas earned his doctoral degree in biological sciences at UB in 2009.