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Ophthalmic Genomics Laboratory

About our work

The Ophthalmic Genomics Laboratory (OGL) manages biobanking and clinical molecular genetic testing of biospecimens in support of NEI clinical center protocols. The goals and objectives of the OGL are:

  • Facilitate clinical and research molecular genetic testing for patients seen in the NEI clinics.
  • Maintain clinical biospecimens, including DNA, RNA, and skin- and blood-derived cell lines from patients.
  • Next-generation sequencing and boinformatics pipeline for exome and genome analysis, including┬á processing, alignment, variant calling, and variant prioritization.
  • Improve clinical DNA variant classification to define causal variants underlying human heritable vision disorders, including population-based analyses and functional laboratory studies.
  • Biospecimen and diagnostic testing support for multiple NEI clinical protocols, including NCT02077894, NCT01432847, NCT00378742, and NCT02471287.

The Ophthalmic Genomics Laboratory is a fully integrated, clinical functional genomic laboratory supporting NEI clinical care, research efforts, and extramural collaborations. DNA samples from over 3000 study participants and more than 30 patient cell lines are maintained within the laboratory. Represented heritable ocular conditions include but are not limited to: Achromatopsia, Albinism, Aniridia, Coloboma, Microphthalmia, Anophthalmia, Axenfeld-Rieger Syndrome, Best Disease, Bietti Crystalline Dystrophy, Choroideremia, Cone Rod Dystrophy, Congenital Stationary Night Blindness, Corneal Dystrophy, Juvenile X-linked Retinoschisis, Leber Hereditary Optic Neuropathy (LHON), mitochondrial DNA disorders, Optic Atrophy Type 1, Pattern Dystrophy, PNPLA6 disorders, Retinitis Pigmentosa, Sorsby Fundus Dystrophy, Stickler Syndrome and Stargardt Disease, and Usher Syndrome.

Specific tests are performed in-house via CLIA-certified genetic testing, including for RS1 X-linked Retinoschisis (XLRS), OPN1LW/OPN1MW Blue Cone Monochromacy (BCM), and site-directed testing for familial segregation and research finding confirmation. Clinical reports are returned to clinic, and clinical phenotyping and molecular diagnostic results are directly compared and discussed in regular clinical molecular rounds meetings.

The OGL has also developed a bioinformatics pipeline for processing next-generation sequencing data, including panel, exome, and genome datasets, for annotating different variation types such as single nucleotide variants, insertions-deletions, large deletions, and duplications, and structural variations including translocations. Variant prioritization tools are developed by the lab using large disease cohorts, internal variant frequencies, and development of pipeline annotations such as variation constraint, in silico predictors, and published epigenomic datasets.

key staff

News from this lab

Group of cells tinted purple in the middle and pink at the edges representing a human induced stem cell colony from a patient with albinism.

NIH researchers develop first stem cell model of albinism to study related eye conditions

January 11, 2022

Researchers at the National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA).

Last updated: November 17, 2021