Genetics of Papilloma-induced Voice Distrubance

描述(申请人提供)：从高中开始，我就渴望通过将科学应用于医学来帮助人们。临床实践本身在情感上是令人满意的，但智力刺激来自于对临床实践产生的问题的科学探索。无限的机会、政治稳定和相对安全的犯罪行为吸引了我从南非来到美国。我已经获得了美国公民身份，作为一名儿科耳鼻喉科医生，我的正式临床培训最近也完成了。现在必须把注意力放在培养我的科学技能上。有必要熟悉最新的生命科学技术，同时保持已经掌握的技能。计划在遗传学、分子生物学应用和信息管理领域进行教学，并在CGS实验室和咨询实验室内提供实践学徒。博士后博士和埃利希博士(CGS基因组科学中心联席主任)的研究指导和故障排除帮助将确保我选择的研究领域取得进展，从而使我能够为独立的职业生涯奠定基础。 CGS由6名首席调查人员和20名其他工作人员提供支持。在许多其他成就中，这些研究人员已经定位了胃食道反流的基因。该中心配备了价值超过250万美元的仪器，包括：用于构建和分析阵列的多个机器人平台；多个高通量自动测序系统，以及一个集成的生物信息学系统。CGS每年获得约200万美元的校外研究支持(90%的NIH)，并受到母公司阿勒格尼综合医院的高度评价。 PI一直对这种鲜为人知的反复发作的呼吸道乳头状瘤病着迷，并希望通过对其了解而留下自己的印记。这种疾病很少受到关注，但它会导致儿童发声困难、失语和呼吸困难，需要他们接受无数的外科手术，直到最终出现缓解。许多人暴露在致病病毒中，但大多数人没有感染这种疾病。最新的基因组学进展使人们能够发现感染病原体的潜在遗传易感性。已经建立了合作，以获得和分析这种任务所需的标本。

DESCRIPTION (provided by applicant): Since high school, I have had a desire to help people through the application of science to medicine. Clinical practice alone is emotionally gratifying but intellectual stimulation is derived from the scientific exploration of questions generated by clinical practice. Boundless opportunities, political stability and relative safety from crime attracted me to the US from South Africa. My US citizenship has been obtained and my formal clinical training as a pediatric otolaryngologist has recently been completed. Attention must now be directed at developing my scientific skills. It is necessary to become familiar with the latest life sciences techniques, while maintaining the skills already acquired. Didactic teaching in the fields of genetics, molecular biology applications and information management coupled with hands-on apprenticeships within CGS laboratories and those of consultant laboratories are planned. Research mentorship and troubleshooting assistance by Drs. Post MDPhD and Ehrlich PhD (co-directors of the Center for Genomic Sciences, CGS) will ensure progress in my chosen research field and thereby enable me to build the foundation for an independent career. The CGS is powered by 6 principal investigators and 20 other staff members. Amongst many other achievements, these researchers have localized a gene for gastroesophageal reflux. The center is equipped with over $2.5 million worth of instrumentation including: multiple robotic platforms for construction and analysis of arrays; multiple high throughput automated sequencing systems, and an integrated bioinformatics system. CGS receives approximately $2 million/year in extramural research support (90% NIH) and is held in high regard the parent organization, Allegheny General Hospital. The PI has been fascinated by the poorly-understood affliction, recurrent respiratory papillomatosis and whishes to make his mark by contributing to its understanding. The disease has received little attention yet it renders children dysphonic, aphonic and dyspneic and requires that they undergo numerous surgical procedures until remission eventually occurs. Many individuals are exposed to the causative viruses but most do not get the disease. The latest genomic advances enable one to discover the underlying genetic susceptibilities to infectious agents. Collaborations have been established to obtain and analyze the specimens necessary for such a mission.