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Our research is directed to identifying the genetic causes of inherited blindness, identifying the mechanisms linking mutation to disease, and developing treatment approaches. Studies are done in the dog model which is affected a large variety of inherited photoreceptor diseases that are now being characterized at the molecular level. For "disease hunting" work, we have used two general approaches. The first, phenotype directed candidate gene analysis, directs selection of a small subset of candidate genes that, when mutated, would be expected to result in the observed phenotype. The second approach utilizes informative pedigree resources we have developed to carry out genome wide scans to identify the disease bearing chromosomal region. Subsequently, positional cloning of the gene and identification of the causative mutation is carried out. Once the genes and mutations are identified, we use molecular and proteomic approaches to examine the disease mechanism. In parallel, gene based therapies are developed with the goal of restoring function and preventing the degeneration of the mutant photoreceptor cells.
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bioRxiv : the preprint server for biologyno. 1 (2024): 18-18
Leonardo Murgiano, Esha Banjeree, Cynthia O'Connor,Keiko Miyadera,Petra Werner,Jessica K Niggel,Gustavo D Aguirre,Margret L Casal
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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Vision research (2023): 108260-108260
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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