Fundació Puigvert, Barcelona, Spain
Dr. Roser Torra
Fundació Puigvert is a monographic center devoted to kidney diseases. It is the nephrology, urology and andrology department of Hospital de Sant Pau and belongs to the University Autónoma de Barcelona. It covers a population of 450.000 inhabitants and also a flow of patients that come to this institution due to its monographic nature. There is a special unit of Inherited Kidney Disorders lead by Roser Torra. It is a multidisciplinary Unit involving nephrologists, geneticists and urologists. Its aim is the diagnosis, information, genetic counseling and follow up of patients with IKD. The Unit has also a translational research laboratory. Most of the research done to date has been incorporated into daily practice.
This Unit is coordinated by Roser Torra. The translational research laboratory is chaired by Elisabet Ars. The Unit has a large experience in clinical Management, Genetics and research on IKD. Roser Torra started working in the field in 1993 as a Resident in Hospital Clinic (Barcelona). She did her PhD on molecular genetics of autosomal dominant polycystic kidney diseases in 1997. Although polycystic kidney disease has been a permanent focus of interest a commitment towards any IKD has centered her activity and the one of the group for all these years. Patients from all over Spain are visited in the Unit and genetic tests for IKD are required from hospitals all around the country. Moreover phone calls and e mails asking for advice for different aspects of IKD are received every day from Spain and foreign countries.
For the last 15 years the group has received research funding from FIS (13 grants), Marató TV3 and private grants. The group belonged to REDEMETH and now to REDINREN. It is also an associate group of EuRenOmics.
We have carried out research studies on autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, Alport syndrome, tuberous sclerosis, focal segmental glomerulosclerosis, Fabry disease etc. More than 100 articles have been published on IKD during these years and the group is nowadays a National reference center and has also international reputation.