Kidney Week

Diabetic Kidney Disease: Translating Pathogenic Mechanisms into Therapies

Diabetic Kidney Disease - I. Genetics and Epigenetics

November 05, 2019 | 07:00 AM - 11:00 AM

Location: 151, Walter E. Washington Convention Center

Session Description

Early Program "Diabetic Kidney Disease: Translating Pathogenic Mechanisms into Therapies"

Support is provided by an educational grant from Janssen Biotech, Inc., administered by Janssen Scientific Affairs, LLC.

Presentations

• Continental Breakfast and Check-in
  07:00 AM - 08:00 AM
  

Continental Breakfast and Check-in

November 05, 2019 | 07:00 AM - 08:00 AM

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• Welcome and Introduction
  08:00 AM - 08:15 AM
  Ariela Benigni, PhD
  

  Ariela Benigni, PhD

  Katherine R. Tuttle, MD, FASN
  

  Katherine R. Tuttle, MD, FASN

Welcome and Introduction

November 05, 2019 | 08:00 AM - 08:15 AM

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• Genetic Determinants
  08:15 AM - 08:45 AM
  Friedhelm Hildebrandt, MD 
  
  

  Friedhelm Hildebrandt, MD

  Friedhelm Hildebrandt, M.D. is the William E. Harmon Professor of Pediatrics at Harvard Medical School, the Chief of the Division of Nephrology of Boston Children's Hospital, and an alumnus investigator of the Howard Hughes Medical Institute (HHMI). His research work is concerned with the identification and functional characterization of recessive single-gene causes of kidney diseases in children and young adults, including nephrotic syndrome, cystic renal ciliopathies, and congenital anomalies of the kidney. His group has identified over 80 novel monogenic causative genes for chronic kidney disease and delineated the related pathogeneses. Dr. Hildebrandt’s lab studies the function of newly identified disease genes in disease models of mice, zebrafish, C. elegans, and Drosophila, as well in cell-based systems. His work was involved in the early development of efficient methods for gene identification by combining homozygosity mapping with whole exome resequencing. It contributed to discovery of renal cystic ciliopathies as a new disease entity and delineated a role of DNA damage repair signaling in the pathogenesis of ciliopathies (Chaki et al. Cell 150:533-48, 2012; Zhou et al. Nat Genet 44:910-15; editorial p. 836-8). His group identified 80 of the 240 monogenic genes known to cause early-onset chronic kidney disease, if mutated, and has delineated new pathomechanisms of nephrotic syndrome (Braun et al. Nat Genet 48:457, 2016; 49:1529, 2017). His lab has recently shown that in over 20% of cases with early-onset chronic kidney disease (<25 yrs) a causative single-gene mutation may be identified using high-throughput sequencing techniques. The research work of his lab has been supported mostly by peer-reviewed research grants, from the NIH, the HHMI, the Doris Duke Charitable Foundation, the March of Dimes, the NephCure Foundation, the Thrasher Research Foundation, and the German Research Foundation. He has published over 280 original articles in high-ranking journals. Dr. Hildebrandt received the Mead Johnson Award by the Pediatric Academic Societies, the Homer W. Smith Award by the American Society of Nephrology (ASN), and the Lillian Jean Kaplan Award for PKD Research, and the Franz Volhard Award. He is a member of the American Association of Physicians (AAP), the German National Academy of Sciences, and the National Academy of Medicine (NAS/IOM).

Genetic Determinants

November 05, 2019 | 08:15 AM - 08:45 AM

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• DNA Methylation and Histone Modifications
  08:45 AM - 09:15 AM
  Katalin Susztak, MD, PhD 
  
  

  Katalin Susztak, MD, PhD

  Katalin Susztak, M.D., Ph.D. Professor of Medicine (Renal Electrolyte and Hypertension Division) and Genetics University of Pennsylvania Dr. Katalin Susztak is a physician-scientist at the University of Pennsylvania. Her laboratory is interested in understanding the pathomechanism of chronic kidney disease development. Her laboratory uses next generation sequencing methods and a large collection of human kidney tissue samples to identify novel pathways and biomarkers. At present there are more than 2,700 kidney tissue samples in her Biobank. The samples are carefully annotated with functional (eGFR, albuminuria) and structural (glomerulosclerosis and tubulointerstitial fibrosis) parameters. RNAsequencing analysis has been completed for more than 800 microdissected glomerular and tubular samples. These discovery approaches are complemented with careful cell and molecular biological studies to define the role of individual genes and pathways. This analysis identified a concerted dysregulation of immune system, metabolic and developmental genes (Niranjan et al. Nature Medicine 2008, Kang et al Nature Medicine 2015). While transcript level differences can highlight important changes in human CKD, we believe that integrating these results with genetic and epigenomic studies will be essential to identify causal pathways for CKD development (Qiu at al Nature Medicine 2018, Park et al. Science 2018). As such her laboratory has been part of the NIH Roadmap Epigenomics Projects to characterize the epigenome of healthy and diseased kidneys. Dr. Susztak has been the recipient of the 2011 Young Investigator Award of the American Society of Nephrology and American Heart Association; one of the most prestigious award given to researchers under the age of 41 in the field of nephrology. Her laboratory is supported by the National Institute of Health, the American Diabetes Association, the Juvenile Diabetes Research Foundation and private sources. “I think this is a really exciting time in science. New technologies are emerging, which will really accelerate research progress, and I think we have fantastic new discoveries ahead of us in biology.”

DNA Methylation and Histone Modifications

November 05, 2019 | 08:45 AM - 09:15 AM

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• Regulatory Roles of MicroRNAs
  09:15 AM - 09:45 AM
  Ariela Benigni, PhD
  

  Ariela Benigni, PhD

Regulatory Roles of MicroRNAs

November 05, 2019 | 09:15 AM - 09:45 AM

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• Long Noncoding RNAs
  09:45 AM - 10:15 AM
  Farhad R. Danesh, MD, FASN
  

  Farhad R. Danesh, MD, FASN

Long Noncoding RNAs

November 05, 2019 | 09:45 AM - 10:15 AM

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• Break
  10:15 AM - 10:30 AM
  

Break

November 05, 2019 | 10:15 AM - 10:30 AM

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• Panel Discussion
  10:30 AM - 11:00 AM
  Ariela Benigni, PhD
  

  Ariela Benigni, PhD

  Farhad R. Danesh, MD, FASN
  

  Farhad R. Danesh, MD, FASN

  Friedhelm Hildebrandt, MD
  

  Friedhelm Hildebrandt, MD

  Katalin Susztak, MD, PhD
  

  Katalin Susztak, MD, PhD

Panel Discussion

November 05, 2019 | 10:30 AM - 11:00 AM

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