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 three clinical attendings in the OGVFB (Dr. Ekaterini Tsilou, Dr. Paul Sieving, Dr. Cathy Cukras, Dr. Wadih Zein, 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. Nancy Huynh and continued training of Maryam Moktarzadeh as a volunteer fellow, one day every two weeks Dr. Huynh performed well and has accepted a position at Kaiser Permanente in Atlantat. As part of the fellowship, all fellows are exposed to basic science research through the NEI DNA Diagnostic Lab. 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.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Clinical Training Intramural Research (ZIE)
Project #
1ZIEEY000477-05
Application #
8737702
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2013
Total Cost
$508,243
Indirect Cost
Name
U.S. National Eye Institute
Department
Type
DUNS #
City
State
Country
Zip Code
Summers, Angela C; Snow, Joseph; Wiggs, Edythe et al. (2017) Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. Am J Med Genet A :
Wang, Chen; Brancusi, Flavia; Valivullah, Zaheer M et al. (2017) A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching. Ophthalmic Genet :1-5
Vilboux, Thierry; Doherty, Daniel A; Glass, Ian A et al. (2017) Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med 19:875-882
Bryan, Melanie M; Tolman, Nathanial J; Simon, Karen L et al. (2017) Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Mol Genet Metab 120:378-383
Stephen, Joshi; Yokoyama, Tadafumi; Tolman, Nathanial J et al. (2017) Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. PLoS One 12:e0173682
Vilboux, Thierry; Malicdan, May Christine V; Chang, Yun Min et al. (2016) Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. J Med Genet 53:318-29
Brooks, Brian P; Thompson, Amy H; Sloan, Jennifer L et al. (2016) Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. Ophthalmology 123:571-82
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico et al. (2015) Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet 97:99-110
Johnston, Jennifer J; Lewis, Katie L; Ng, David et al. (2015) Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet 96:913-25
Huynh, Nancy; Blain, Delphine; Glaser, Tanya et al. (2013) Systemic diagnostic testing in patients with apparently isolated uveal coloboma. Am J Ophthalmol 156:1159-1168.e4

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