Fellow

Fiona Karet is a Wellcome Trust Senior Fellow in Clinical Science Cambridge. She is nephrologist who has identified genes responsible for clinically important inherited abnormalities of the renal tubule. Whilst in Yale she cloned the NKCC2 gene encoding the bumetanide-sensitive ion channel of Henle’s loop and contributed to the demonstration that Bartter’s syndrome can be due to mutations of this gene. More recently she has focussed on primary renal tubular acidosis and has identified mutations in the basolateral anion exchanger AE1 as responsible for autosomal dominant distal renal tubular acidosis. She has gone on to identify the genetic basis of autosomal recessive distal renal tubular acidosis and her work has explained why this is also associated with deafness. She has identified novel genes expressed in the kidney that contribute to renal tubular acidosis and is now clearly identifying the mechanisms by which the mutations she has found alter protein trafficking, polarization and survival. Her work is of fundamental importance in elucidating molecular mechanisms of renal physiology, has shed light on generic mechanisms of transporter function and has provided genetic diagnosis of renal tubular diseases.