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

描述(由申请人提供)：这份R13拨款提案是为了支付2011年FASEB夏季研究会议“从长凳到床边的多囊肾病”的演讲者和会议主席的部分旅费和会议费。具体地说，我们要求提供资金来支持被邀请发言的初级调查人员，以及被选为在会议上口头陈述的受训人员的补贴会议费。FASEB关于PKD的会议自2002年以来每三年举行一次，是该领域的主要研究会议。多囊肾病是一组遗传性疾病，可导致肾脏囊性发育，常导致终末期肾病(ESRD)。最常见的形式是常染色体显性遗传性PKD(ADPKD)，是一种成人起病的疾病，通常导致ESRD在第六个十年，约占美国ESRD患者的4%。一些罕见的隐性遗传性PKD，包括常染色体隐性遗传性PKD(ARPKD)和综合征，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；是纤毛疾病。近年来，在识别这些疾病的基因和了解缺陷蛋白的功能方面取得了相当大的进展。细胞研究已经发现了PKD中的多个信号通路异常，这导致了潜在的干预措施的确定，目前正在动物模型中进行测试。此外，目前正在进行40项临床试验；包括为世界各地的患者带来希望的第三阶段研究。这次会议的计划是聚集36名基础科学和翻译水平的PKD方面的世界专家，提供关于这些疾病的最新研究发现。另有18名经验丰富的研究人员将担任会议主席，领导有关PKD研究中许多悬而未决的问题的讨论。其他参与者将被鼓励提交摘要，被评为最有价值的18人将被选为简短的口头陈述，其余的将以海报的形式展示。会议的形式将最大限度地进行讨论和互动，促进新的合作，并为新的潜在疗法提供线索。将初级调查人员和女性纳入该计划，以及实习生参与的可能性，应该有助于促进一种大学氛围，使初级科学家的培训经历最大化，并激发他们对从事PKD研究的职业的兴奋。 公共卫生相关性：这项应用是为了帮助支持关于一组遗传性疾病--多囊肾病(PKD)的研究的最重要的国际会议。最近的进展使人们更好地了解了疾病的过程，并发展了多项临床试验。这次会议旨在促进合作，并进一步探索对这一致命疾病组进行可能的临床干预。

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.