The Aldo and Cele Daccò Clinical Research Centre for Rare Diseases in Ranica, in the province of Bergamo, was founded in 1992 with the aim of establishing a centre dedicated exclusively to the study of rare diseases, a field that the centre played a pioneering role in at a time when there were very few such resources in Italy.
At the outset, the centre mainly offered information to patients diagnosed with rare diseases, who at the time lacked access to relevant news and resources. For those diagnosed with a rare disease, learning more about the condition is one of their most urgent needs.
In addition to this service to patients, over the years the Daccò Center has become an important centre for the collection of data that is useful in planning clinical trials, thanks to the growth of its rare diseases database.
At the same time, the centre’s institutional activity has grown increasingly significant, in the form of collaborations with ministries, regional departments, local health agencies and individual physicians. Through these, the centre has contributed to shaping health policy on rare diseases in Italy. The centre has also maintained collaborative relationships over the years with researchers and institutions at the international level, especially with the European Commission.
Since December 2001 the Ranica Center has been recognised as the Coordination Center of the Regional Network of Rare Diseases (DGR N° VII/7328 of 11/12/2001).
One fundamental source of support to the centre’s research activities is the ARMR Foundation (Aiuti per la Ricerca sulle Malattie Rare), which has been working alongside the Mario Negri Institute since 1993. The funds raised each year are used to establish annual scholarships awarded to researchers, both Italian and foreign.
The centre promotes independent clinical research and drug studies for patients affected by rare diseases, which include very heterogeneous pathologies and involve all areas of medical interest. This is done through multidisciplinary projects ranging from basic clinical research to epidemiological research, as well as dissemination and training activities.
The centre, using adequate patient cohorts, carries out clinical trials to test the efficacy of new therapeutic approaches, both directly – involving patients who are seen at the Ranica site – and by playing a coordinating role in national and international multicentre studies.
The centre’s Genetics laboratory is engaged in multidisciplinary research projects to identify the genetic causes of a number of rare diseases and determine their effects at the molecular and cellular level. The objectives are to expand our understanding of pathogenetic mechanisms, improve diagnosis and identify targeted therapies.
Important results have been achieved with a number of rare diseases caused by an abnormal activation of the complement system, a part of the immune system that is essential in defending against infections but which, due to complex genetic alterations, attacks the body’s own tissues, causing functional deterioration. A thorough evaluation of the genetic and biochemical factors underlying diseases is essential in order to provide personalised therapy for individual patients with drugs that act at the precise point of the complement cascade where a patient’s specific abnormality is located.
Over the years, the growth of thedatabase containing information about many rare diseases has provided a wealthof data, which has been enriched by the availability of biological samples.
This important and rich database has made it possible to develop several useful Disease Registries that makes itpossible to answer complex questions.
Today the Ranica centre has several biobanks, currently housed in a Biological Resource Center (CRB),which provides valuable support to research conducted with the aim ofdeveloping new therapeutic approaches.
The centre, in line with the work it has carried out since its inception, provides an information service for patients, their families and health professionals by documenting and gathering a wealth of information on all issues related to rare diseases. It also promotes meetings between patients affected by the same diseases.
Since 2010 the centre has performed genetic and biochemical investigations for a number of rare diseases, through an agreement with the Italian national health service.
The centre’s research activities concern not only rare diseases, but also chronic kidney diseases, complications of diabetes, and organ transplantation. For this reason, advanced diagnostic skills have been strengthened in some areas, such as the characterisation of thrombotic microangiopathies, rare kidney diseases – with particular reference to hereditary cystic diseases – glomerular diseases, and syndromic forms with urinary tract involvement, leading to the identification of new disease genes, the clarification of pathogenetic mechanisms and the study of potential treatments.
In 2001 the Daccò Center was recognised by the Coordination Center of the Lombardy Regional Network of Rare Diseases, and has since enriched its activity with new and important functions, such as: