The 2 nd International Forum on Polycystic and Rare Kidney Diseases Program Sep3 rd -5 th, Hefei City, China

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1 08:00-24:00 Check in 18:00-19:00 Cocktail reception 19:00-19:30 Vasopressin V2 receptor antagonists in the treatment of polycystic kidney disease Vicente Torres 19:30-20:00 Navigating the publishing process at scientific journals Randy Levinson 20:00-22:00 Welcome banquet 08:00-08:30 Welcome speech Changlin Mei 08:30-09:00 Structure biology of polycystic kidney disease Yigong Shi 09:00-09:30 Polycystic kidney and liver disease: How do we get from gene discovery to therapy? Stefan Somlo 09:30-10:00 Rare disease registration in China Shuyang Zhang 10:00-10:15 Coffee break 10:15-10:45 Clinical perspectives on ARPKD: are we ready for clinical trials? Lisa Guay-Woodford 10:45-11:15 Insights into Alport syndrome, a disease of the glomerular basement membrane Jeff Miner 11:15-11:45 Alport's disease in China Jie Ding 11:45-12:00 Introduction to PKD Foundation David Baron 12:00-13:00 Lunch buffet The 2 nd International Forum on Polycystic and Rare Kidney Diseases Program Sep3 rd -5 th, Hefei City, China Monday, Sep 3 rd, 2018 Keynote lecture and welcome banquet, Dubai Hall Moderator: Changlin Mei, Jie Ding Tuesday morning, Sep 4 th, 2018 Opening ceremony and plenary lecture, Dubai Hall Moderator: Jie Ding, Zhaohui Ni, Bicheng Liu Moderator: Randy Levinson, Lisa Guay-Woodford

2 13:00-13:20 Aquaporin-3 deficiency slows renal cyst growth by impairment of glucose metabolism via AMPK/ERK/mTOR signaling Baoxue Yang 13:20-13:40 Targeting glutamine metabolism as a treatment for polycystic kidney disease Thomas Carroll 13:40-14:00 MIF-CD74 signaling in regulating cyst growth and renal fibrosis in ADPKD Xiaogang Li 14:00-14:20 Metabolic reprogramming in ADPKD Robert Weiss 14:20-14:40 Activation and function of P-TEFb kinase complex in ADPKD Yupeng Chen 14:40-14:52 Interaction between macrophages and cyst-lining epithelial cells promotes kidney cyst growth in Pkd1 deficient mice Yang Yang 14:52-15:04 The function of Anoctamin 1 in ADPKD Tao Xu 15:04-15:15 Coffee break 15:15-15:35 Cilia regulation of injury responses and connections with cystic kidney disease Bradley Yoder 15:35-15:55 Effective restoration of polycystin dosage in cilia context by targeting axoneme polyglutamylation Jinghua Hu 15:55-16:15 Cordon-bleu and primary cilium formation Shengqiang Yu 16:15-16:35 Apical PtdIns (4, 5) P2 is required for ciliogenesis and suppression of polycystic kidney disease Ying Cao 16:35-16:55 Differential diagnosis of cystic kidney diseases Qinggang Li 16:55-17:05 Coffee break 17:05-17:25 Polycystic kidney disease research: where are we and where shall we go? Jing Zhou 17:25-17:37 The role of EZH2 in progression of ADPKD Lin Li 17:37-17:49 Scribble influences cyst formation in ADPKD by regulating Hippo signaling pathway Dechao Xu 17:49-18:01 Construction of PKD mini-pig models and treatment study using diabetic drugs Xueyuan Bai 18:01-18:13 Klotho influences cyst growth in ADPKD Jiayi Lv 18:13-18:25 18:30-20:00 Dinner Tuesday afternoon, Sep 4 th, 2018 PKD Session, Dubai Hall Moderator: James Calvet, Jinghua Hu Moderator: Marie Trudel, Yonggui Wu Moderator: Michal Mrug, Xiaogang Li PC1 cleavage regulates proteasome activity and its potential therapeutic implication in ADPKD Meihan Chen

3 13:00-13:20 Using drosophila to model rare genetic kidney diseases Zhe Han 13:20-13:40 Benefit-risk considerations in the drug development for inherited kidney diseases Shiguang Liu 13:40-14:00 Advances in diagnosis and treatment of Fabry disease Nan Chen 14:00-14:20 Strategy for genetic study in the kidney diseases with complex trait Hong Zhang 14:20-15:00 Discussion 15:00-15:15 Coffee break 15:15-15:35 Pathology of congenital and metabolic renal diseases Suxia Wang 15:35-15:55 Role of complement alternative pathway activation in the development of renal diseases Min Chen 15:55-16:00 Discussion 16:00-16:10 Three rare renal diseases in China: Analysis of 2014~2015 hospitalization summary report from 96 tertiary hospitals Xinmiao Shi 16:10-16:20 Ultrasonic image analysis of rare renal tumors in children Xiaoman Wang 16:20-16:30 Report of Children's Kidney Transplantation from multicenter-strenthening the genetic Study of uremia in children Qian Shen 16:30-16:40 Phenotypic analysis of 30 children with genetic diagnosis of Alport syndrome JieYing Feng 16:40-16:50 Six children with complex inheritance pattern in Alport syndrome Yanqin Zhang 16:50-17:00 17:10-17:10 Genetic variants of the COL4A5, COL4A4 and COL4A3 genes in the children with familial hematuria Genetic and Functional Characterization of PHEX Gene Variants in 42 Children with X- Linked Hypophosphatemic Rickets Zheng Li Bixia Zheng 17:10-17:20 Clinical Study of Atypical Hemolytic Uremic Syndrome Chunyan Wang 17:20-17:30 Progress of Diagnosis and Treatment of Gitelman Syndrome Hong Ren 17:30-17:40 Genetic Risk Factors of IgA Nephropathy Jingyuan Xie 17:40-17:50 17:50-18:00 18:00-18:10 18:10-18:20 18:20-18:30 Discussion 18:30-20:00 Dinner Tuesday afternoon, Sep 4 th, 2018 RKD Session, Roman Hall Moderator: Nan Chen, Hong Zhang Moderator: Jianhua Zhou, Hong Xu Identification of six novel loss-of-function SLC12A1 mutations in patients with Bartter syndrome type 1 An insertion pathogenic variant in a Chinese family with X-linked Alport syndrome revealed by whole-exome sequencing A splicing mutation of COL4A5 gene alter collagen IV α5 to cause X-link Alport syndrome in a Chinese family A novel uromodulin gene mutation in a Chinese family with medullary cystic kidney disease: pediatric case report and literature review. Bixia Zheng Qing Ye Xinyu Kuang Jing Yang

4 08:00-08:20 Fibrosis in HNF1B-related autosomal dominant tubulointerstitial kidney disease (ADTKD) Peter Igarashi 08:20-08:40 Polycystin-1 GPS cleavage in kidney health and polycystic kidney disease Feng Qian 08:40-09:00 Metabolic and mitochondrial defects in polycystic kidney disease: drivers or passengers? Alessandra Boletta 09:00 09:20 microrna-based therapeutics for polycystic kidney disease Vishal Patel 09:20-09:40 PKD2 and PKD2L1 pore gates Xingzhen Chen 09:40-10:00 Polycystin complexion channel: assembly and function Yong Yu 10:00-10:10 Coffee break 10:10-10:30 Update on the PREVENT-ADPKD clinical trial Gopala Rangan 10:30-10:50 GFR trajectories in ADPKD patients in the CRISP and HALT studies Alan Yu 10:50-11:10 Clinical research of ADPKD in Japan Saori Nishio 11:10-11:30 Genetic profile of ADPKD in Korea Curie Ahn 11:30-11:50 The establishment of a multidisciplinary management of PKD in Taiwan Juliana Kao 11:50-12:10 Tolvaptan, its real clinical practice based on the clinical guideline in Japan Ken Tsuchiya 12:10-13:00 Lunch buffet Wednesday morning, Sep 5 th, 2018 PKD Session, Dubai Hall Moderator: Terry Watnick, Satoru Muto Moderator: Yiqiang Cai, Tevfik Ecder

5 08:00-08:20 Nephronophthisis and medullary cystic diseases in Chinese children Jianhua Zhou 08:20-08:40 National promotion plan---the precise diagnosis and treatment of hereditary nephrolithiasis in children Hong Xu 08:40-09:00 Precision diagnosis and treatment of renal mitochondrial cytopathies Aihua Zhang 09:00-09:10 Analysis of phenotypes with PAX2-related disorder Haiyue Deng 09:10-09:20 Study on the new genes of Steriod-Resistant NS in children Jia Rao 09:20-09:30 Clinical features and prognosis of 75 children of Wilson s Disease with renal injury Jingjing Jiang 09:30-10:00 Discussion 10:00-10:10 Coffee break 10:10-10:30 Renal hypomagnesemia Jianhua Mao 10:30-10:50 Diagnosis and treatment of hereditary steroid resistant nephrotic syndrome Zihua Yu 10:50-11:10 Diagnosis and treatment of hereditary kidney diseases Fang Wang 11:10-11:20 ARPKD in Chinese children : a clinical and genetic evaluation Liru Qiu 11:20-11:30 11:30-11:40 11:40-11:50 11:50-12:10 Discussion 12:10-13:00 Lunch buffet Wednesday morning, Sep 5 th, 2018 RKD Session, Roman Hall Moderator: Aihua Zhang, Zihua Yu Moderator: Jianhua Mao, Fang Wang Genetic characteristics of patients with polycystic kidney disease (PKD): one center experience A patient with Skeletal Anomalies and Renal Insufficiency due to Mutations in the Gene WDR19 Genetic variants of familial hematuria associated genes in families with hematuria with probands diagnosed with IgA nephropathy Fei Liu Hua Xia Jiewei Liu

6 13:00-13:30 A cleavage product of PC1 is a mitochondrial matrix protein that regulates mitochondria morphology and function Gregory Germino 13:30-14:00 Genetic complexity in polycystic kidney disease Peter Harris 14:00-14:30 How tissue context affects cystogenesis Dorien Peters 14:30-15:00 ADPKD in China Changlin Mei 15:00-15:15 Coffee break 15:15-15:45 Alport syndrome from bench to bedside: a multi-target approach for nephroprotection Oliver Gross 15:45-16:15 Alport syndrome-how do matrix changes cause glomerular dysfunction? Rachel Lennon 16:15-16:45 Recent progress in the genetic approach for the inherited kidney diseases Nozu Kandai 16:45-17:15 Closing remark 17:30-19:00 Farewell dinner Wednesday afternoon, Sep 5 th, 2018 Plenary Session, Dubai Hall Moderator: Vicente Torres, Chuanming Hao Moderator: Oliver Gross, Rachel Lennon

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