Ophthalmic Genetics Fellowship

眼科遗传学奖学金

• 批准号: 9362459
• 负责人: Brian Brooks
• 金额: $ 71.9万
• 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/9362459
• 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; Medical Genetics; Metabolic Diseases; Methods; Microphthalmos; Molecular Diagnosis; Molecular Genetics; Neurofibromatosis 2; Participant; Patients; Perimetry; Physicians; Preparation; 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 counselor; genetic pedigree; malformation; molecular diagnostics; 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. Laryssa Huryn and continued training of Maryam Moktarzadeh as a volunteer fellow, one half-day a week. 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.

眼科遗传学家的陈述临床职责是： 1）协助进行眼科遗传学患者的检查，包括接受相关的医学和家族史以及眼科检查。 预计她每周至少有一天在OGVFB的三个临床上工作（Ekaterini Tsilou博士，Paul Sieving博士，Cathy Cukras博士，Wadih Zein博士和Brian Brooks博士）。 每周至少有一天应保留用于学术和行政任务。 2）获得有关临床和分子遗传学的工作知识。 这将通过FAES的正式课程（基因500系列和其他补充课程），与医生和遗传顾问进行诊所的动手培训以及分子诊断实验室。 可以预期，在培训结束时，该研究员将能够收集三代血统，了解临床遗传学评估的基础知识，并具有分子诊断的工作知识。 3）精通眼科遗传学患者的检查和治疗。 这将包括电诊断（ERG，多灶性ERG，VEPS）和心理物理测试（Goldmann perimetry和Dark Adaptation）的执行。 4）在奖学金总监的批准下，执行其选择的临床或基础科学研究项目。 5）定期在星期五上午和/或周三下午的会议上，由奖学金主任指定。 该格式将包括患者演讲，文献评论和/或期刊俱乐部。 6）协助准备和撰写手稿以供出版 7）协助准备和撰写临床方案 在过去的一年中，我们已经完成了Laryssa Huryn博士的培训，并继续培训Maryam Moktarzadeh为志愿者，每周半天为期半天。 作为奖学金的一部分，所有研究员都通过NEI DNA诊断实验室暴露于基础科学研究中。 研究员已经暴露于多种遗传性眼部疾病，包括视网膜炎，星形疾病，赤瘤疾病，leber先天性amurisos，coloboma，coloboma，microphthalmia，onophthalmia，Aniridia，wagr，Wagr，Holoprosencephaly，wagroprosencephaly，cinoproscorposencephaly，cintrosphaly，cinstinosis，usher综合综合症典型菌群2 Trichothiodyrophrophy和Bardet-Biedl综合征。 此外，我们还积极参与NIH范围的未诊断疾病计划。