Ophthalmic Genetics Fellowship

眼科遗传学奖学金

• 批准号: 8938544
• 负责人: Brian Brooks
• 金额: $ 52.13万
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8938544
• 关键词: Adult; Affect; Albinism; Aniridia; Anophthalmos; Bardet-Biedl Syndrome; Basic Science; Caring; Child; Clinic; Clinical; Clinical Protocols; Clinical Sciences; Coloboma; Cystinosis; DNA; Dark Adaptation; Diagnostic; Disease; Electrophysiology (science); Environment; Evaluation; Eye; Eye diseases; Family; Family history of; Fellowship; Generations; Genetic; Genetic Counseling; Genotype; Hereditary Disease; Holoprosencephaly; Individual; Inherited; Investigation; Journals; Knowledge; Laboratories; Learning; Leber' s amaurosis; Manuscripts; Metabolic Diseases; Methods; Microphthalmos; Molecular; Molecular Diagnosis; Molecular Genetics; Neurofibromatosis 2; Participant; Patients; Perimetry; Physicians; Positioning Attribute; Preparation; Professional counselor; Psychophysics; Publications; Research; Research Project Grants; Retinal macula; Retinitis Pigmentosa; Review Literature; Series; Stargardt' s disease; Syndrome; Testing; Training; Trichothiodystrophy; United States National Institutes of Health; Usher Syndrome; Vision; Visual; WT1 gene; Work; Writing; Xeroderma Pigmentosum; Zein; achromatopsia; genetic pedigree; malformation; multidisciplinary; programs; symposium; volunteer

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.

眼科遗传学研究员的规定临床职责是： 1) 协助眼科遗传学患者的检查，包括获取相关病史和家族史以及眼科检查。 她预计每周至少有一天与 OGVFB 的三名临床主治医生（Ekaterini Tsilou 博士、Paul Shaving 博士、Cathy Cukras 博士、Wadih Zein 博士和 Brian Brooks 博士）一起工作。 每周至少应预留一天用于学术和行政任务。 2) 获得临床和分子遗传学的应用知识。 这将通过 FAES（GENES 500 系列和其他补充课程）的正式课程、医生和遗传咨询师在诊所以及分子诊断实验室的实践培训来完成。 预计培训结束时，该研究员将能够收集三代谱系，了解临床遗传学评估的基础知识，并掌握分子诊断的工作知识。 3）熟练掌握眼遗传学患者的检查和治疗。 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) 经奖学金主任批准，开展自己选择的临床或基础科学研究项目。 5) 按照奖学金主任的指定，定期出席周五上午和/或周三下午的会议。 形式将包括患者演示、文献综述和/或期刊俱乐部。 6）协助出版稿件的准备和撰写 7）协助临床方案的准备和撰写 在过去的一年里，我们完成了 Nancy Huynh 博士的培训，并继续对 Maryam Moktarzadeh 作为志愿者研究员进行培训，每两周一天，Huynh 博士表现良好，并接受了亚特兰大 Kaiser Permanente 的职位。 作为奖学金的一部分，所有研究员都可以通过 NEI DNA 诊断实验室进行基础科学研究。 研究员接触过多种遗传性眼病，包括色素性视网膜炎、斯塔加特病、全色盲、莱伯先天性黑蒙、缺损、小眼症、无眼症、无虹膜、WAGR、前脑无裂畸形、胱氨酸病、亚瑟综合征、2型神经纤维瘤病、白化病、色素性干皮病、毛发硫营养不良症和 Bardet-Biedl 综合征。 此外，我们还积极参与 NIH 范围内的未确诊疾病计划。