This case study will explore how Natera and Purespring Therapeutics partnered to uncover insights on NPHS2 using the Renasight™ database. Natera will share the process for extracting valuable data from their kidney disease clinocogenomic database. Purespring will discuss how the NPHS2 insights have impacted their business.
Bryce Powerman is a healthcare professional, patient advocate, and survivor of DOCK8 deficiency, an ultra-rare primary immunodeficiency. Diagnosed at the National Institutes of Health (NIH) after a lengthy diagnostic odyssey, he eventually underwent a life-saving pediatric bone marrow transplant in a first-in-human trial. Bryce serves as the Director of Business Development at Natera, a leading genetic testing company in the renal space, where he champions early genetic testing and proactive education as critical tools for improving patient outcomes.
Dr. Moin Saleem is a Professor of Paediatric Renal Medicine at the University of Bristol and Director of Bristol Renal, a research group of approximately 45 scientists studying all areas of glomerular research. He originated the gold-standard human podocyte cell lines used globally and set up the UK Renal Rare Disease Registry (RaDaR). He also leads the UK nephrotic syndrome study, a major industry-academic collaboration (NURTuRE), and a gene therapy program focused on the podocyte to advance kidney disease treatment. Dr. Saleem is a Fellow of the Royal College of Physicians and trained at University College and the Institute of Child Health, London, and Great Ormond Street Hospital. He is also Co-founder & Chief Scientific Advisor to Purespring Therapeutics.
Dinah Clark has been a genetic counselor at Natera since 2011 and worked at The Children’s Hospital of Philadelphia in the 10 years prior. Natera entered the organ health space in 2019, and since then, she has focused on renal genetics, managing clinical and scientific content that supports novel discoveries and pharma partnerships. Dinah graduated from Rutgers University with a BS in Biology and Psychology and received a Master’s Degree in Genetic Counseling from Arcadia University.