ERA-EDTA WORKING GROUP ON INHERITED KIDNEY DISORDERS
Board Members:
Olivier Devuyst, Zurich (President) DoI
Franz Schaefer, Heidelberg (Secretary) DoI
Corinne Antignac, Paris
René Bindels, Nijmegen DoI
Dominique Chauveau, Toulouse
Ron Gansevoort, Groningen DoI
Patrick H. Maxwell, London
Albert Ong, Sheffield DoI
Giuseppe Remuzzi, Bergamo DoI
Pierre Ronco, Paris DoI
The composition of the board takes into account the wide diversity of the inherited kidney disorders area, including the adult and pediatric nephrology, and the clinical, research, genetics, physiology and pathophysiology aspects.
The reason behind the creation of an ERA-EDTA working group on inherited kidney disorders:
As physicians, we are deeply concerned by the health care priority represented by inherited kidney diseases in Europe. These diseases represent a heavy physical and psychological burden for the affected patients, often children, and their families. The care of patients with inherited nephropathies suffers from major problems. The rarity of these conditions, and their phenotype variability, implies limited knowledge of the underlying mechanism(s) and natural course, lack of standardisation of diagnostic procedures, fragmentation of the clinical and biological data collections, small cohorts that restrict the power of clinical studies, without mentioning a lack of priority for the pharmaceutical industry and even public funding.
As researchers, we are aware of the necessity to generate and diffuse new scientific knowledge about the causes, mechanisms and consequences of inherited nephropathies. These efforts must involve exchange and networking at the EU level, to develop a global approach based on collaborations between complementary teams using various methodologies. An international collaboration is also crucial to avoid fragmentation of knowledge or duplication of efforts. Increasing knowledge on rare diseases will also yield new insights relevant for more frequent disorders (progression of renal disease, blood pressure control, prevention of renal stones, effect of gender and ageing, multi-systemic involvement of renal diseases, etc…).
Aims:
• To encourage research, on a Europe-wide scale, on the natural history and pathophysiology of inherited diseases affecting the kidney. These disorders will include orphan nephropathies affecting all components of the nephron as well as cystic kidney disorders;
• To address the need for epidemiology data and registries, the necessity for earlier and more efficient diagnosis, the identification of new therapeutic targets and improved and affordable care;
• To facilitate the dissemination of knowledge to the health care providers, the patients and their families;
• To organize specific meetings, in conjunction with the annual ERA-EDTA congress and on specific occasions (meeting focusing on education and research proposals).
Members of our Core Group are currently involved in several EU-funded projects addressing kidney diseases (EuReGene, Genecure, EUNEFRON, PodoNet, Escape), in addition to multiple international collaborative efforts in clinical and more fundamental research on inherited kidney disorders. We represent a body of expertise involved in teaching at the national and international level, with a deep motivation to coordinate efforts to diffuse scientific knowledge and raise public awareness for inherited nephropathies in the EU, in collaboration with the associations of patients and the public authorities, within the context of the policies developed by the ERA-EDTA.
The establishment of the Working Group would be an excellent opportunity to gather the active groups working in this field, which are competing at the international level, as well as many junior investigators and clinicians interested in this area. It would also foster the exchange between adult and pediatric nephrologists, with links with geneticists and more fundamental researchers. We estimate that more than 50 groups, totalizing 200+ participants from all across Europe, could be involved in the initial phase. We feel that we should include colleagues interested in all types of orphan nephropathies, including ciliopathies and cystic kidney disorders (including autosomal dominant polycystic kidney disease which is not usually considered as a rare disease).
Contacts:
Olivier Devuyst, Zurich (President), E-mail: olivier.devuyst@uzh.ch or olivier.devuyst@uclouvain.be
Rita Kant (Prof. Devuyst Assistant), E-mail: wgikd@era-edta.org
Events:
CME Course 2013: Clinical and scientific advances in the management of patients with ADPKD
September 12-13, 2013, Jesus College, University of Oxford, UK
http://www.era-edta.org/Oxford2013.htm
• Program of the WGIKD CME organized during the ERA-EDTA Annual Congress, Saturday May 18, Istanbul
• Preliminary Program for the Oxford CME on ADPKD
• List of the WGIKD Impulsion Grants for 2012
Links:
UK RaDaR: http://www.rarerenal.org/diseases/gout-associated-nephropathies/