Renal Genetics From bedside to bench and back again


Although individually rare, there are many inherited and tubular disorders of the kidney affecting children and adults. This talk will offer a bedside-to-bench-and-back overview of some of the clinical issues facing patients with rare kidney disorders, together with our genetic and cell biological discoveries concerning the C-terminal tails of individual proteins, and why they are so important in ensuring normal renal tubular function.


Professor Fiona Karet has been Professor of Nephrology at the School of Clinical Medicine, University of Cambridge since 2005, and honorary consultant nephrologist at Addenbrooke’s Hospital since 2001. Professor Karet was elected a Fellow of the Academy of Medical Sciences in 2004, the year she also established the Renal Genetics and Tubular Disorders Clinical Service at Addenbrooke’s. The clinic cares for all Cambridge’s adult pre-dialysis patients with polycystic kidney disease, and many with Gitelman Syndrome, heritable disorders such as stones, renal tubular acidosis and early-onset hypertension.
Professor Karet’s main research interests lie downstream of the glomerulus and focus on mechanistic understanding of rare or inherited kidney diseases, and the functions of urinary exosomes. This laboratory research is accompanied by her clinic-based research activities.
Professor Karet is the Director of Organisational Affairs at Addenbrooke’s School of Clinical Medicine, and is responsible for its Athena SWAN initiative for gender equality in science. She leads the National Institute for Health Research’s Rare Diseases Translational Research Collaboration Renal Theme. She is a trustee of Kidney Research UK. Recently she was Academic Vice-Presidency of the UK Renal Association, and led the development of the UK’s recently-published National Renal Research Strategy.

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