Genetic of Papilloma-induced Voice Distrubance

描述（由申请人提供）：自高中以来，我一直希望通过科学在医学上的应用来帮助人们。临床实践本身在情感上是令人满意的，但智力上的刺激来自对临床实践产生的问题的科学探索。无限的机会、稳定的政治环境和相对安全的犯罪环境吸引我从南非来到美国。我已获得美国公民身份，最近完成了作为儿科耳鼻喉科医生的正式临床培训。现在必须集中注意力发展我的科学技能。有必要熟悉最新的生命科学技术，同时保持已经获得的技能。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实验室和顾问实验室内进行实践学徒。Post MDPhD和埃利希博士（CGS基因组科学中心的联合主任）的研究指导和故障排除帮助将确保我所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名首席调查员和20名其他工作人员组成。在许多其他成就中，这些研究人员已经定位了胃食管反流的基因。该中心配备了价值超过250万美元的仪器，包括：用于阵列构建和分析的多个机器人平台;多个高通量自动测序系统和集成生物信息学系统。CGS每年获得约200万美元的校外研究支持（90% NIH），并受到上级组织阿勒格尼总医院的高度重视。 PI对这种鲜为人知的疾病--复发性呼吸道乳头状瘤病非常着迷，希望通过对它的理解来做出自己的贡献。这种疾病很少受到关注，但它使儿童发声困难，失语症和呼吸困难，并要求他们接受许多外科手术，直到缓解最终发生。许多人暴露于致病病毒，但大多数人不会患病。最新的基因组学进展使人们能够发现潜在的遗传易感性感染病原体。已经建立了合作关系，以获取和分析这种使命所需的标本。

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.