FASEB SRC on "Polycystic Kidney Disease, From Bench to Bedside"

描述（由申请人提供）：此R13补助金提案将部分支付2011年FASEB夏季研究会议“多囊肾病，从长凳到床边”的演讲者和会议主席的差旅费和会议费。具体而言，我们要求提供资金，以支持应邀发言的初级调查员，并为选定在会议上口头发言的受训人员提供会议费补贴。自2002年以来，FASEB关于PKD的会议每三年举行一次，是该领域的首要研究会议。多囊肾是一组遗传性疾病，导致肾脏囊肿发育，通常导致终末期肾病（ESRD）。最常见的常染色体显性PKD（ADPKD）是一种成人发病疾病，通常在60岁时导致ESRD，约占美国ESRD患者的4%。许多罕见的隐性遗传性PKD形式，包括常染色体隐性PKD（ARPKD）和综合征性疾病，如Meckel综合征、Joubert综合征和Bardet Biedl综合征，也属于这一组。所有形式的PKD都被认为是由于初级纤毛功能缺陷所致;是纤毛病。近年来，在鉴定这些疾病的基因和理解缺陷蛋白质的功能方面取得了相当大的进展。细胞研究已经确定了PKD中的多种信号通路异常，这导致了目前正在动物模型中测试的潜在干预措施的确定。此外，目前正在进行40项临床试验，包括为全球患者提供希望的III期研究。本次会议的计划是汇集36名基础科学和转化水平的世界PKD专家，提供有关这些疾病的最新研究发现。另外18名经验丰富的研究人员将担任会议主席，领导关于PKD研究中许多悬而未决的问题的讨论。将鼓励其他与会者提交摘要，并将选出18名最有价值的与会者作简短的口头介绍，其余的与会者将以海报的形式介绍。会议的形式将最大限度地提高讨论和互动，促进新的合作，并为新的潜在疗法提供线索。将初级研究人员和妇女纳入该计划，以及受训人员参与的可能性，应有助于促进一种合议的氛围，这将最大限度地提高初级科学家的培训经验，并激发他们对PKD研究事业的兴趣。 公共卫生相关性：这个应用程序是为了帮助支持最重要的国际会议关于研究一组遗传疾病，多囊肾病（PKD）。最新的进展导致了对疾病过程的更好理解和多个临床试验的发展。本次会议旨在促进合作，并进一步探索对这组致命疾病的可能临床干预措施。

DESCRIPTION (provided by applicant): This R13 grant proposal is to partially cover the travel and conference fee expenses of presenters and session chairs of the 2011 FASEB Summer Research Conference, "Polycystic Kidney Disease, From Bench to Bedside". Specifically, we request monies to support junior investigators invited to speak, plus subsidized conference fees for trainees selected to present orally at the meeting. This FASEB meeting on PKD has been held every third year since 2002 and is the premier research meeting in this area. Polycystic kidney diseases are a group of inherited disorders that result in cyst development in the kidney often resulting in end stage renal disease (ESRD). The most common form, autosomal dominant PKD (ADPKD), is an adult onset disorder typically resulting in ESRD in the sixth decade, and accounting for ~4% of ESRD patients in the US. A number of rare recessively inherited forms of PKD, including autosomal recessive PKD (ARPKD) and syndromic diseases, such as Meckel syndrome, Joubert syndrome and Bardet Biedl syndrome, also fall into this group. All forms of PKD are thought to be due to defects in the functioning of primary cilia; are ciliopathies. In recent years considerable progress has been made in identifying genes for these disorders and in understanding the functions of the defective proteins. Cellular studies have identified multiple signaling pathway abnormalities in PKD that has lead to the identification of potential interventions which are now being tested in animal models. In addition, 40 clinical trials are now underway; including Phase III studies that provide hope for sufferers worldwide. The plan of this meeting is to bring together 36 world experts in PKD at the basic science and translational level to provide the most up-to-date research discoveries about these disorders. A further 18 experienced investigators will serve as session chairs leading discussions about the many outstanding questions in PKD research. Other participants will be encouraged to submit abstracts and the 18 judged as most meritorious will be selected for short oral presentations, while the remainder will be presented as posters. The format of the meeting will maximize discussion and interaction, fostering new collaborations and providing clues for new potential therapies. Inclusion of junior investigators and women in the program, and the potential for trainee involvement, should help promote a collegial atmosphere that will maximize the training experience for junior scientists and excite them about a career in PKD research. PUBLIC HEALTH RELEVANCE: This application is to help support the most important international meeting about research into a group of genetic diseases, polycystic kidney diseases (PKD). Recent advances have lead to a better understanding of the disease processes and to the development of multiple clinical trials. This meeting is designed to foster collaboration and to further explore possible clinical interventions for this deadly group of disorders.