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Project I: Retinitis Pigmentosa – X-linked RP – #1 Cause of RP

RPGR imageMain Research Question: Understating RP mechanism in order to identify possible treatments for this disease.

Research Approach: Using known RP animal models (mice and zebrafish) to better understand the disease.

Concepts: "Growing retina in a petri dish"; using human skin cells from RP patients; convert to induced pluripotent stem cells (iPSCs) and then differentiate them into optic cups.

Collaborators: UPenn, UCL (University College of London)


Project II: Generating a Pig Model of Eyes Shut Homolog (EYS) Associated Retinitis Pigmentosa – #2 Cause of Autosomal Recessive RP

Main Research Question: There is no animal model for this genetic mutation. This project is focused on generating a pig model.

project image

Research Approach: Using CRISPR-Cas9 to edit EYS in the genome and then examine the eye phenotype.

Concepts: Understand how the disease is caused; test new gene therapy in this model; conduct gene therapy safety studies in this model. 

Collaborators: Dr. Heather Gray-Edwards in the Horae Gene Therapy Center and Dr. Jaime Rivera in the Department of Pediatrics UMass Chan

Project III: Minigene Therapy for Ocular Diseases Due to Mutations in Large Genes, Which Are Not Packageable in Conventional AAV

Main Research Question: How to deliver large genes for gene therapy using conventional AAV?

Research Approach: Generate shorter genes – "mini-genes" – which will be functional.

Concepts: To create a smaller (<4 Kbase), yet functional, form of the gene.

Collaborators: Dr. Guangping Gao in the Gene Therapy Center

Ongoing Minigene Therapy Programs:

  • Usher Syndrome (RP), USH2A = Usherin → 15 Kbase
  • Stargardt Disease (Degrative Retinal Disease) = ABCA4 → 8 Kbase
  • EYS-Retinitis Pigmentosa (RP) → 9 Kbase

Project IV: Using the Knowledge From Rare Diseases to Approach Common Causes of Blindness

Main Research Question: Design a gene therapy to approach common blinding diseases (AMD, DR, ROP, neovascularization).

Research Approach: Reduce oxidative stress by delivering anti-oxidant genes;long-term anti-VEGF treatment.

Concepts: Use OXR-1 gene (anti-oxidative stress) to prolong photoreceptors' life (mice); prolong cone survival in RP.

Collaborators: Dr. Michael Volkert in MAPS