Scientific Advisory Panel

Dr. Mrug is a Professor of Medicine in the Division of Nephrology at the University of Alabama at Birmingham (UAB) where he trains the next generation of physicians and scientists. He is recognized as one of “Top Doctors” by Castle Connolly Medical Ltd. He co-founded and co-directs the UAB PKD Clinic and oversees clinical PKD research activities at UAB since 2009. This includes the CRISP study, an NIH-funded collaborative effort between Emory University, University of Kansas, Mayo Clinic, UAB and University of Pittsburgh that has led to many seminal discoveries. He also coordinated the REPRISE clinical trial for UAB; outcomes of this study played a crucial role in the recent FDA approval of tolvaptan as the first treatment for ADPKD. Dr. Mrug’s clinical research is centered on the development of statistical models for identification of ADPKD patients that may benefit most from therapeutic interventions. His basic research is focused on the discovery of molecular pathways that modulate PKD progression. He also directs the Therapeutics Development and Screening Core, one of four cores within the UAB Hepatorenal Fibrocystic Disease Core Center. This Center is one of three NIH-funded U54 centers focused on PKD; the other two are located at the University of Kansas and the University of Maryland. The mission of these centers is the development of innovative technologies to advance PKD research and to provide access to these resources to other scientists to promote PKD research in institutions where such resources are not available. The activities of the UAB Center are focused on ARPKD. 

Vishal Patel, M.D., is an Assistant Professor of Medicine at the University of Texas Southwestern Medical Center in Dallas, Texas. He obtained his medical degree in India and then completed his internal medicine residency training at the McGraw Medical Center of Northwestern University in Chicago, and a clinical nephrology fellowship and a basic science fellowship sponsored by the National Institutes of Health at the University of Texas Southwestern Medical Center. Dr. Patel has received numerous awards for academic achievement during medical school and a career development award from the NIH. He was also named a ‘rising star’ in Nephrology by Texas Monthly magazine.

Dr. Patel runs a pre-clinical polycystic kidney disease research laboratory at UT Southwestern. His research is focused on understanding the role of microRNAs in PKD progression and developing microRNA-based drugs for PKD. His laboratory is funded by grants from the NIH and the PKD foundation. In addition to research, Dr. Patel also sees patients at Parkland Hospital in Dallas, Texas. He is planning to launch a new multidisciplinary clinic in the coming months with the goal of providing comprehensive clinical care for PKD patients at UT Southwestern.

The main interest of Dr. Boletta’s laboratory is to understand the normal function of PC-1 protein in ADPKD and to identify potential new targets for therapy in PKD. In a recent study, her laboratory also described a defect at the level of glucose metabolism in PKD.  She received a PKD Foundation grant for a continuation of this work. One additional interest is in understanding the mechanism which leads to renal epithelial transformation in a subset of cystic kidney diseases, such as Tuberous Sclerosis Complex, which are characterized by the presence of cystadenomas and carcinomas in addition to cysts.

Dr. Neera Dahl is currently a clinician-educator and an Associate Professor at Yale University, School of Medicine, Section of Nephrology. She completed an MD and PhD from Tufts University School of Medicine, and then residency and fellowship at the Beth Israel Deaconess Medical Center, in Boston, MA. She has been at Yale since 2007. She has been instrumental in developing the Yale Inherited Kidney disease clinical program, and is the principal investigator for several ongoing clinical trials in ADPKD. She maintains an active ADPKD registry and is involved in research exploring the role of inflammation and fibrosis in the progression of ADPKD. She is the director of the Yale Nephrology Clinical Trials Program.

Berenice Gitomer, Ph.D., is a Research Professor of Medicine in the Division of Renal Diseases and Hypertension and an Associate Director of the Polycystic Kidney Disease Research Group at the University of Colorado Anschutz Medical Campus. She joined the Renal Division at the University of Colorado as a full-time faculty member in 2003 to study the genetics of autosomal dominant polycystic kidney disease (ADPKD). She obtained her doctoral degree from Trinity College, Dublin, Ireland before coming to the U.S. to complete a postdoctoral fellowship at the National Institutes of Health. She subsequently joined the faculty at the University of Texas Southwestern Medical Center to study the genetics of kidney stone disease. Dr. Gitomer’s research focuses on the identification of factors that affect the severity and progression of ADPKD, with the goal of identifying new therapeutic targets to slow disease progression.

Erum Aftab Hartung, M.D., MTR, is a pediatric nephrologist at the Children’s Hospital of Philadelphia (CHOP). Her research interests include autosomal recessive polycystic kidney disease (ARPKD), development of imaging biomarkers of kidney and liver disease, and neurocognitive outcomes in children with chronic kidney disease. She currently serves as chair of the Research Committee of the American Society of Pediatric Nephrology, and is the Associate Program Director for the pediatric nephrology fellowship at CHOP. Dr. Hartung’s research is funded by grants from the National Institute of Diabetes and Digestive and Kidney Diseases (National Institutes of Health) and the University of Pennsylvania (Penn). Dr. Hartung is on the faculty of the Perelman School of Medicine at Penn as Assistant Professor of Pediatrics. She lives in Swarthmore, PA with her husband and two children.

Jinghua Hu, Ph.D., is an Associate Professor of Biochemistry and Molecular Biology in the Department of Biochemistry and Molecular Biology and an Association Professor of Medicine in the Division of Nephrology and Hypertension at Mayo Clinic. Dr. Hu received his Ph.D. from Chinese Academy of Science in 2001. He completed his postdoctoral training with Dr. Maureen M. Barr at the University of Wisconsin-Madison and was recruited as an Assistant Professor of Medicine and BMB in 2007.

Dr. Hu’s research systematically explores cilia-related human diseases, or collectively termed ciliopathies, by using various disease models from the inexpensive and efficient nematode C. elegans, to cultured mammalian cells and genetically-engineered rodent models. His lab has developed numerous ciliopathy models of ciliopathies, including ADPKD and other syndromic renal disorders such as nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, and Joubert syndrome, with the goal of understanding the pathogenesis of cystogenesis and testing the potential for diagnostic/therapeutic purposes. Dr. Hu administered numerous extramural funding, and presently holds two R01 grants from NIDDK, and Co-PI on another two R01s with his Mayo colleagues.  Dr. Hu also serves as a Co-director of the Model Organism Core in NIH-funded P30 Mayo Translational PKD Center.

Max C. Liebau, MD, is a clinical consultant pediatric nephrologist at the Department of Pediatrics at the University Hospital Cologne, Germany, where he holds positions as Head of the Social Pediatric Center for Chronically Ill Children and Head of Translational Pediatric Nephrology. Dr Liebau combines his clinical training as a pediatric nephrologist with his experience in cellular and molecular biology obtained in the Nephrology Research Laboratories in Freiburg and Cologne, Germany and at the University of California, Santa Barbara. His group follows a translational research approach to study genetic kidney diseases with a special focus on Autosomal Recessive Polycystic Kidney Disease (ARPKD). The group aims to understand the molecular function of the ARPKD protein fibrocystin and to characterize clinical long-term courses of ARPKD as a basis for the identification of clinical and/or biochemical risk markers of disease progression. Dr Liebau initiated and is currently leading the international ARPKD registry study ARegPKD and is a co-initiator of the pediatric ADPKD registry study ADPedKD. His research is funded by the German Research Council and the German Federal Ministry for Education and Research amongst others.

Dr. Pazour is currently a Professor of Molecular Medicine at the University of Massachusetts Medical School.  He obtained his PhD from the University of Minnesota studying the plant pathogen Agrobacterium.  This was followed by post-doctoral studies at the Worcester Foundation for Biomedical Research where he made the unexpected connection between cilia in the green alga Chlamydomonas and cystic kidney disease.  His laboratory focuses on understanding the mechanisms of ciliary assembly and the role that cilia play in mammalian health and development.  In particular the Pazour group is interested in the function of the intraflagellar transport proteins.  This thirty-protein complex is critical to build cilia and is evolutionarily conserved across eukaryotes from green algae to humans.  Defects in most intraflagellar transport proteins block ciliary assembly and cause cystic kidney disease, retinal degeneration and structural birth defects in many organs including the kidney.  Current work is focused on the intersection between ciliary assembly processes and sensory functions of cilia.

Dr. Qian graduated in Biology at the University of Freiburg, Germany.  He received his Ph.D. (Dr. rer. nat.) from the Universities of Heidelberg and Freiburg, Germany under the supervision of Professor Dr. Albrecht Sippel, working on genomic organization, splice products and chromosomal localization of the gene family of transcription factor Nuclear Factor One. He did his postdoctoral fellowship in the laboratory of Gregory Germino, M.D. at Johns Hopkins to study polycystic kidney disease, where he participated in genomic sequencing of human PKD1 gene, discovered molecular interaction between polycystin-1 and -2, and elucidated the “two-hit” mechanism of cystogenesis in human autosomal dominant polycystic kidney disease.

Dr. Qian joined the faculty of Johns Hopkins University School of Medicine as an Assistant Professor and moved to University of Maryland School of Medicine as an Associate Professor in 2012. He studies the function of proteins encoded by genes whose mutations cause human polycystic kidney disease to establish a firm mechanistic understanding of the disease process. His laboratory has discovered cis-autoproteolytic cleavage of polycystin-1 at the juxtamembrane GPCR proteolysis site (GPS) motif and has established this post-translational modification as a key regulatory mechanism of the protein. His laboratory is currently focusing on investigating molecular mechanisms of biogenesis, ciliary trafficking, ion channel function of polycystins for proper renal morphology and function.

Dr. Frederic Rahbari-Oskoui is an Associate Professor of Medicine and the Director of the Cystic and Inherited Kidney Diseases Clinic at Emory University School of Medicine in Atlanta, GA. He obtained his medical degree from the University of Bordeaux in France and completed his first residency training in Internal Medicine at the same university.

Dr. Rahbari completed a second internal medicine residency program at St. Vincent’s Medical Center-Columbia University in 2002 and enrolled in a 3-year academic track fellowship in Nephrology and cystic kidney diseases under Dr. Arlene Chapman’s mentorship at Emory University. He joined the Faculty at Emory University in 2006 as an instructor in medicine and was promoted to the rank of Assistant Professor of Medicine in 2008 and Associate Professor of Medicine in 2014.

Dr. Rahbari’s research expertise is in the fields of renal cystic diseases and particularly polycystic kidney disease. He has been an investigator in several landmark trials in ADPKD including: HALT-PKD, TEMPO, REPRISE, and the CRISP observational cohort. His other areas of interest are hypertension, imaging studies of the kidneys and acute kidney injury.

Dr. Rahbari has coauthored more than 40 original articles, review articles, UpToDate chapters, communication letters, and about 40 abstracts and poster presentations at local and national meetings.

Dr. Rahbari firmly supports the fantastic effort of the PKD Foundation and has been a regular participant in the Walk for PKD, fundraising and patient information sessions in GA, NC, and TN.

Dr. Sandford qualified in London in 1985 and trained in nephrology in Leicester, London, and Cambridge before developing a special interest in renal genetic diseases in Cambridge after completing his Ph.D. in 1995.

Since then he has specialized in renal genetics and is part of the Cambridge Renal Genetics and Tubular Disorders Clinic in The Addenbrookes Treatment Centre. Many individuals and families living with ADPKD are seen in this clinic which combined nephrology, genetics, urology and clinical biochemistry in a multidisciplinary setting.

His research interests include the clinical epidemiology of ADPKD, genetic testing, and methods of predicting disease progression.

Dr. Robert H. Weiss is a clinician/scientist nephrologist and cell biologist and is Professor of Medicine, Emeritus, at UC Davis and Chief of Nephrology at the Sacramento VA Medical Center. His training was all at several campuses of the University of California. His clinical and research interests are broad and include vascular and hereditary renal disease as well as kidney cancer. He was among the first to characterize the role of the cyclin kinase inhibitors in cancer as well as to utilize metabolomics to search for biomarkers and therapeutic targets in kidney cancer and PKD.

Dr. Yu directs a laboratory-based research program that investigates renal tubule physiology and diseases. A current focus is on understanding paracellular epithelial transport and its regulation. Paracellular transport occurs through tight junctions and is mediated by a family of channels called claudins. The investigation of claudins promises to reveal novel fundamental insights into the pathogenesis of many diseases, including acute kidney injury, salt-sensitive hypertension and kidney stone disease. Dr. Yu also performs clinical research in polycystic kidney disease. He is particularly interested in translating bench research findings about cell signaling pathways into drugs and therapeutics, especially repurposed drugs, and testing them in early phase human trials.

Dr. Yu is a general nephrologist who sees the full spectrum of kidney diseases. He has a special interest in fluid, electrolyte and acid-base disorders, including hyponatremia, hypernatremia, hypokalemia, hyperkalemia, hypomagnesemia, renal tubular acidosis, and inherited tubulopathies, particularly Barrter’s and Gitelman’s syndrome.