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Nephronophthisis (NPHP) & Related Rare Cystic Kidney Diseases

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Featuring

Carl Bates

Carl Bates, MD

Nephrologist & Professor
    UPMC Children’s Hospital of Pittsburgh*

Dr Carl Bates received his MD degree at The Ohio State University College of Medicine. He then completed a Residency in Pediatrics at Nationwide Children’s Hospital and then a fellowship in Pediatric Nephrology at the University of Texas Southwestern (UTSW) Medical Center in Dallas. Dr Bates has held various faculty positions at UT Southwestern as well as The Ohio State University in conjunction with Nationwide Children’s Hospital. However, in 2008 his career led him to the University of Pittsburgh, where he became the Division Director of Pediatric Nephrology and the Director of the Pediatric Nephrology Fellowship Program at the Children’s Hospital of Pittsburgh of UPMC until 2016. More recently, Dr Bates took on the role as Vice Chair of Basic Research in the Department of Pediatrics at the University of Pittsburgh School of Medicine.

Rannar Airik

Rannar Airik, PhD

Assistant Professor of Pediatrics & Developmental Biology
    UPMC Children’s Hospital of Pittsburgh*

Dr Airik obtained his doctoral degree in the field of developmental biology from the Medical University Hannover, Germany, where he worked on the molecular analysis of the lower urinary tract development to decipher the mechanisms of urogenital abnormalities in human diseases known as congenital anomalies of the kidney and urinary tract (CAKUT). Dr Airik then went on to conduct postdoctoral research on molecular genetics at the University of Michigan as well as the Boston Children’s Hospital in conjunction with Harvard Medical School.

Dr Airik’s work has characterized the molecular function of several genes, which if mutated cause nephronophthisis, a genetic form of childhood chronic kidney disease which we will highlight today. Understanding how an impaired DNA damage response pathway can contribute to renal degeneration and fibrosis, and ultimately the progression to renal failure will provide the field with a better understanding on the pathophysiology of disease and potential targets.

Moderator

Jill A. Green

Jill A. Green, PhD

Nephrology Senior Clinical & Scientific Liaison
    Otsuka Pharmaceutical Development & Commercialization, Inc.*

Jill A Green, PhD, is a Senior Clinical & Scientific Liaison in the nephrology division at Otsuka Pharmaceutical Development & Commercialization, Inc. Dr Green received her PhD in biomedical sciences, with a specialization in biochemical and molecular basis of disease. She went on to hold a research scientist role at The James Comprehensive Cancer Center at The Ohio State University, specializing in oncology pre-clinical research before taking a position as a Regulatory Compliance Officer where she managed thoracic oncology clinical trials at The James Cancer Hospital.
Dr Green has been a proud member of the PKD Foundation – Columbus, Ohio chapter for over 12 years where she has been active in fundraising and advocacy efforts.

Nephronophthisis (NPHP) & Related Rare Cystic Kidney Diseases

In alignment with Rare Disease Day, the NephU community wanted to explore cystic kidney diseases as they encompass a broad group of rare disorders with various characteristics. These cystic disorders can present throughout an individual’s lifetime from infancy to childhood or even adulthood. In some cases, cystic kidneys can be detected in utero.1 Tune-in to the NephU webinar where we are joined by experts, Carl Bates, MD and Rannar Airik, PhD who will describe nephronophthisis (NPHP), the most frequent genetic cause for end-stage kidney disease in the first three decades of life,2 and its associated rare genetic syndromes such as Senior-Løken Syndrome (SLNS), Joubert Syndrome (JSRD), Meckel Syndrome (MKS), and Bardet-Biedl Syndrome (BBS). Learn more about the exciting advancements in the field, as researchers have identified numerous disease-causing genes which has allowed for a better understanding of the rare cystic kidney disease pathogenesis and a higher diagnostic accuracy within the clinical setting.

References:

1. Cramer MT and Guay-Woodford LM. (2015). Adv Chronic Kidney Dis. 22(4):297-305.

2. Hildebrandt F and Zhou W. (2007). J Am Societ Nephrol. (18) 1855-1871.

*Drs Bates and Airik are paid consultants of Otsuka Pharmaceutical Development & Commercialization, Inc. (OPDC). Dr Green is an employee of OPDC.

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