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Rare Diseases

Clinical Center and Regional Network Coordination
Head
Giuseppe
Remuzzi
Director
Malattie Rare
giuseppe.remuzzi@marionegri.it
Staff
No items found.

The Clinical Research Centre for Rare Diseases “Aldo e Cele Daccò” in Ranica (BG) has been actively working in the field of rare diseases documentation and research since 1992.

Since 2001, it acts as Coordinating Centre of the Regional network for rare diseases in the Lombardy Region, an area of 9 million people in Northern Italy. As Coordinating Centre, it is also working with the National Centre of Rare Diseases at Istituto Superiore di Sanità in Rome.

 


ObJECTIVES

  • Make up-to-date information available to the scientific community and patients
  • Help advance knowledge in the field
  • Develop multidisciplinary projects (basic research, epidemiological research, clinicalresearch)
  • Follow patient cohorts with the goal to develop research projects
  • Study the molecular and genetic bases of some rare diseases (thromboticmicroangiopathies, preeclampsia, rare renal diseases with particular reference to hereditary cystic diseases, glomerular diseases, syndromic forms with urinary tract involvement); to evaluate the genetic variants underlying rare diseases; to characterise the genetic polymorphisms that predict patients’responses to drug therapies for mono- and polygenic diseases

METHODOLOGICAL APPROACHES

  • Maintaining a data archive, which is essential for identifying patients who could potentially be enrolled in research projects
  • Implementing Rare Disease Registries to collect epidemiological data and answer complex questions thanks to the availability of clinical data and biological samples
  • Running clinical studies to test the efficacy of new therapeutic approaches, both directly – involving patients at the Ranica site – and by playing a coordinating role for national and international multi-centre studies
  • Maintaining a Biobank that collects and preserves biological samples
  • Conducting bioinformatics analysis of clinical, biochemical and genetic data and functional studies to establish personalised therapies

Results

  • The creation of an information service about rare diseases, which has made it possible to answer to 27321 requests for information from patients, family members and health professionals, for a total of 994 rare diseases
  • 325 Italian patient and family associations are in contact with the centre
  • The creation of three registers of rare disease that include 2,500 patients
  • The creation of a Biobank that collects and stores biological samples from 3174 patients who have some of the rare diseases studied, and from their families
  • The development of advanced diagnostic skills, through the identification of new disease genes and the study of pathogenetic mechanisms of different rare diseases. 776 genetic mutations have been found and 131 genes have been studied in our laboratories

* data last updated December 2018

Current projects

RicercaFinalizzata - RF-2016-02361720 - Toward a genetic and pathogenesis drivenclassification and treatment of primary membranoproliferativeglomerulonephritis

Sponsor: Ministero della Salute, DGRicerca e Innovazione in Sanità

Area: Rare diseases

 

Understanding the pathogenetic role of genomic andmolecular FH-FHR abnormalities in DDD and C3GN

Sponsor: Greater Cedar Rapids Community Foundation

Area: Rare diseases

 

Coordinating Center for RareDiseases Network - Lombardy Region

Sponsor: Regione Lombardia

Area: Rare diseases

 

Undiagnosed rare diseases: a bilateral projectItaly-USA

Sponsor: Ministerodegli Affari Esteri e della Cooperazione Internazionale

Area: Rare diseases

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Head
Giuseppe
Remuzzi
Director
Malattie Rare
giuseppe.remuzzi@marionegri.it
Staff
No items found.
Pagina Italiano