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

描述（由申请人提供）：本R13拨款提案部分用于支付2011年FASEB夏季研究会议“多囊肾病，从实验室到病床”的演讲者和会议主席的差旅和会议费用。具体来说，我们要求资金支持被邀请发言的初级研究员，以及被选中在会议上口头发言的学员的补贴会议费用。自2002年以来，FASEB关于PKD的会议每三年举行一次，是该领域的主要研究会议。多囊肾病是一组遗传性疾病，导致肾脏囊肿发展，经常导致终末期肾病（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岁左右导致ESRD，在美国约占ESRD患者的4%。一些罕见的隐性遗传形式的PKD，包括常染色体隐性PKD （ARPKD）和综合征疾病，如Meckel综合征，Joubert综合征和Bardet Biedl综合征，也属于这一群体。所有形式的PKD被认为是由于初级纤毛的功能缺陷；ciliopathies。近年来，在鉴定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。细胞研究已经确定了PKD中的多种信号通路异常，从而确定了潜在的干预措施，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；包括为全球患者带来希望的第三阶段研究。本次会议的计划是将36名世界基础科学和转化水平的PKD专家聚集在一起，提供有关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，就PKD研究中的许多突出问题进行讨论。其他参加者将被鼓励提交摘要，并选出最优秀的18名参加者作简短的口头报告，而其余的参加者将作为海报展示。会议的形式将最大限度地促进讨论和互动，促进新的合作，并为新的潜在疗法提供线索。在项目中纳入初级研究人员和女性，以及潜在的实习生参与，应该有助于促进一种学院氛围，这将最大限度地提高初级科学家的培训经验，并激发他们在PKD研究领域的职业生涯。

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.