EUNEFRON, the European Network for the Study of Orphan Nephropathies

There are at least 60 rare inherited diseases affecting the kidney, which, although individually affecting less than one person in every 2000, have a large negative impact on the quality of life of the patients, often children, and their families [1,2]. The care of patients with rare nephropathies is hampered by major problems. Most of the diseases are chronically debilitating conditions, and some are life threatening. Their rarity and the phenotype variability imply limited knowledge of the underlying mechanism(s) and natural course, lack of standardization of diagnostic procedures and fragmentation of the clinical and biological data collections, with small cohorts restricting the power of clinical studies [3,4]. Furthermore, the low prevalence implies a lack of priority for the pharmaceutical industry and even public funding [5]. The establishment of multidisciplinary projects gathering a critical mass of expertise and patients, at the European level, is thus essential to maximize the impact of research on rare diseases [3]. EUNEFRON (the European Network for the Study of Orphan Nephropathies) is a consortium that has been mobilized in response to the Call HEALTH-2007-2.4.4-1 (‘Natural course and pathophysiology of rare diseases principally affecting the genitourinary tract’) of the framework 7 (FP7) programme for health of the European Union. The research programme, which involves 12 research groups from 10 academic institutions in 8 European countries (Figure 1), has been launched on 1 May 2008, for an initial duration of 4 years and with a total budget of 6 million euros. Rationale and aims of the EUNEFRON consortium