October 18, 2013

Boston, Massachusetts


The Massachusetts Eye and Ear/Harvard Medical School Department of Ophthalmology today announced the availability of a comprehensive genetic diagnostic test for inherited retinal disease (IRD), early-onset glaucoma and optic atrophy. The Genetic Eye Disease, or GEDi, panel uses targeted enrichment coupled with next-generation sequencing (NGS) to simultaneously analyze the coding sequence and selected intronic regions of 234 genes associated with IRD, early-onset glaucoma and optic atrophy, as well as the mitochondrial genome, for likely-pathogenic mutations. Mass. Eye and Ear is the first and only location in Boston and in the northeast to offer this service.

Simultaneously deep sequencing the coding and intronic regions of these 234 genes, as well as the mitochondrial genome, allows for a comprehensive and unbiased genetic analysis of patient samples. This combination of sequencing is especially relevant considering the high degree of genetic heterogeneity associated with IRD. Providing clinicians and patients with accurate GEDi genetic diagnoses can improve genetic counseling and facilitate focal ocular treatments and therapies, including corrective gene therapy clinical trials.

“We are thrilled to be able to offer this thorough clinical genetic diagnostic testing to our patients and to the ophthalmic care community in general,” said Dr. Eric Pierce, Director of the Ocular Genomics Institute (OGI) at Mass. Eye and Ear/Harvard Medical School Department of Ophthalmology. “We find the comprehensive testing valuable as genetic diagnoses can be more accurate than those that are based on clinical features alone.”

The GEDi diagnostic panel is subdivided into two separate tests: GEDi-R for IRD’s (226 genes), and GEDi-O for early-onset glaucoma and optic atrophy (8 genes). Both GEDi genetic diagnostic tests have been validated in compliance with Clinical Laboratory Improvement Amendment (CLIA) requirements, and are offered through the OGI’s CLIA-certified Genetic Diagnostic Laboratory. GEDi targeted regions are covered at 97% at 10x NGS depth-of-coverage. This email address is being protected from spambots. You need JavaScript enabled to view it. .


About Massachusetts Eye and Ear 

Massachusetts Eye and Ear clinicians and scientists are driven by a mission to find cures for blindness, deafness and diseases of the head and neck.  After uniting with Schepens Eye Research Institute, Mass. Eye and Ear in Boston became the world's largest vision and hearing research center, offering hope and healing to patients everywhere through discovery and innovation.  Massachusetts Eye and Ear is a Harvard Medical School teaching hospital and trains future medical leaders in ophthalmology and otolaryngology, through residency as well as clinical and research fellowships.  Internationally acclaimed since its founding in 1824, Massachusetts Eye and Ear employs full-time, board-certified physicians who offer high-quality and affordable specialty care that ranges from the routine to the very complex.  U.S. News & World Report’s “Best Hospitals Survey” has consistently ranked the Mass. Eye and Ear Departments of Otolaryngology and Ophthalmology as among the top hospitals in the nation.

About the Ocular Genomics Institute (OGI)

The primary goal of the OGI is to translate the promise of personalized genomic medicine into clinical care for ophthalmic disorders.

The OGI is working to achieve this goal via a combination of:

  • Laboratory-based translational research,
  • Application of modern genomic technologies to improve clinical genetic diagnosis and identification of new disease genes,
  • Clinical research directed towards clinical trials of novel genetic therapies, and
  • Provision of state-of-the-art clinical care for patients with ophthalmic genetic disorders.
  • Training programs in ophthalmic genetics for medical students, graduate students and clinical fellows.

The OGI is proud to be affiliated with such a renowned institution as Massachusetts Eye and Ear, and strives to continue its legacy of excellence. It is our hope that the evolvement of the OGI will put Massachusetts Eye and Ear and Harvard Medical School at the forefront of progressive genomic research and the development of rational therapies, ultimately making it one of the premier centers in the world for the treatment of inherited ophthalmic disorders.

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