The stated clinical duties of the ophthalmic genetics fellow are: 1) Assisting in the work-up of ophthalmic genetics patients, including taking of pertinent medical and family history and ophthalmic examination. She is expected to work at least one day a week with each of the four clinical attendings in the OGVFB (Dr. Paul Sieving/Dr. Cathy Cukras, Dr. Wadih Zein, Dr. Laryssa Huryn and Dr. Brian Brooks). At least one day a week should be reserved for academic and administrative tasks. 2) Obtain a working knowledge of clinical and molecular genetics. This will be accomplished by formal coursework in FAES (the GENES 500 series and other supplemental course work), hands-on training in the clinic with physicians and genetic counselors, and in the molecular diagnostic laboratory. It is expected that at the end of the training, the fellow will be able to collect a three generation pedigree, understand the basics of a clinical genetics evaluation, and have a working knowledge of molecular diagnostics. 3) Become proficient in the examination and treatment of opthalmic genetics patients. This will include the performing of electrodiagnostics (ERGs, multifocal ERGs, VEPs) and psychophysical testing (Goldmann perimetry and dark adaptation). 4) Perform a clinical or basic science research project of his/her choosing, with the approval of the fellowship director. 5) Present regularly at Friday morning and/or Wednesday afternoon conferences, as assigned by the fellowship director. The formats will include patient presentations, literature reviews, and/or journal clubs. 6) Assist in the preparation and writing of manuscripts for publication 7) Assist in the preparation and writing of clinical protocols Over the past year, we have completed the training of Dr. Ramiro Maldonado and have begun the training of Dr. Dario Marangoni. Dr. Maldonado presented his work on OCT angiography at the ARVO research meeting in May 2017. In addition, we extended the fellowship of Dr. Robert Hufnagel for a second year to include further wet lab research and a molecular genetics fellowship. He presented at national/international meetings, including a Gordon conference on eye development, receiving distinguishing awards. Dr. Hufnagel also added a molecular rounds component to the ongoing fellowship, expanding the role of molecular ophthalmology for our group. As part of the fellowship, all fellows are exposed to basic science research through the NEI DNA Diagnostic Lab and/or other OGVFB labs. Fellows have been exposed to a wide variety of inherited eye diseases including retinitis pigmentosa, Stargardt disease, achromatopsia, Leber congenital amaurosis, coloboma, microphthalmia, anophthalmia, aniridia, WAGR, holoprosencephaly, cystinosis, Usher syndrome, neurofibromatosis type 2, albinism, xeroderma pigmentosum, trichothiodystrophy, and Bardet-Biedl syndrome. In addition, we have been active participants in the NIH-wide Undiagnosed Disease Program.
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