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Genetic Testing In Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Genetic Testing In Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Polycystic Kidney Disease (PKD) is the most commonly inherited disease that can lead to kidney failure.1 Genetic testing is becoming more affordable and its use in the detection of autosomal dominant polycystic kidney disease (ADPKD) mutations for diagnostic and research purposes is more widespread.1

Please join us as our leading expert, Neera Dahl, MD, PhD unravels the complexities of genetic testing in ADPKD, recommendations on when genetic testing is appropriate and indicated, and the different types of molecular genetic tests available. She will also discuss the information provided in a typical clinical genetic report and interpretation of the same.

References:
  1. Ali H, et al. (2019). Sci Rep. 9:4141.

Featuring

Neera Dahl

Neera Dahl, MD, PhD

Professor of Medicine (Nephrology), Medical Director of Nephrology and Director of the Nephrology Clinical Trials Program

Yale School of Medicine*

Neera Dahl, MD, PhD is currently a clinician-educator and a Professor of Medicine at Yale University, School of Medicine, Section of Nephrology. She received her MD and PhD from Tufts University School of Medicine and completed her residency and fellowship at the Beth Israel Deaconess Medical Center, in Boston, MA. 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 also the director of the Yale Nephrology Clinical Trials Program and a member of the Scientific Advisory Board for the Polycystic Kidney Disease Foundation.

Sachin Hajarnis

Sachin Hajarnis, PhD

Nephrology Senior Medical Science Liaison

Otsuka Pharmaceutical Development & Commercialization, Inc.*

Sachin Hajarnis, PhD is a Senior Medical Science Liaison at Otsuka Pharmaceuticals. Dr Hajarnis has a Bachelors and Masters in Life Sciences from University of Mumbai, India. He obtained a PhD in Biochemistry and Molecular Biology from Colorado State University. Dr Hajarnis joined the University of Texas Southwestern Medical school in Dallas, as a post-doctoral fellow in the department of Nephrology where he performed basic research on various aspects of Polycystic Kidney Disease (PKD). He continued his studies on the role of micro-RNAs in PKD as a Research Scientist for several years before joining his current position at Otsuka.

*Dr Dahl is a paid consultant of Otsuka Pharmaceutical Development & Commercialization, Inc. (OPDC). Dr Hajarnis is an employee of OPDC.

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