Ophthalmic Genetics Fellowship

眼科遗传学研究员声明的临床职责是： 1)协助眼科遗传学患者的工作，包括进行相关的病史和家族史以及眼科检查。预计她每周至少与OGVFB的三名临床主治医生(Ekaterini Tsilou医生、Paul Sieving医生、Cathy Cukras医生、Wadih Zein医生和Brian Brooks医生)各工作一天。每周至少要为学术和行政任务预留一天时间。 2)获得临床和分子遗传学方面的实用知识。这将通过FAE的正式课程(基因500系列和其他补充课程工作)、诊所医生和遗传顾问的动手培训以及分子诊断实验室来实现。预计在培训结束时，该研究员将能够收集三代系谱，了解临床遗传学评估的基础知识，并拥有分子诊断学的工作知识。 3)熟练掌握眼科遗传病患者的检查和治疗。这将包括进行电诊断(ERG、多焦点ERG、VEP)和心理物理测试(Goldmann视野检查和暗适应)。 4)在研究员主任的批准下，进行他/她选择的临床或基础科学研究项目。 5)根据研究金主任的安排，定期出席周五上午和/或周三下午的会议。这些形式将包括患者陈述、文献综述和/或杂志俱乐部。 6)协助编写出版手稿 7)协助准备和撰写临床方案 在过去的一年里，我们已经完成了Nancy Huynh博士的培训和Maryam Moktarzadeh作为志愿者研究员的继续培训，每两周一天，Huynh博士表现良好，并接受了Atlantat Kaiser Permanente的一个职位。作为奖学金的一部分，所有研究员都可以通过NEI DNA诊断实验室接触到基础科学研究。研究人员曾接触过多种遗传性眼部疾病，包括视网膜色素变性、Stargardt病、色盲、Leber先天性黑色素、缺损、小眼球、无眼症、虹膜缺乏症、WAGR、无前脑畸形、囊虫病、Usher综合征、2型神经纤维瘤病、白化病、色素性干皮病、毛发硫代营养不良和Bardet-Biedl综合征。此外，我们一直是美国国立卫生研究院未诊断疾病计划的积极参与者。

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.