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Rare Diseases

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

The Department of Rare Diseases focuses on diseases that have a prevalence that is no higher than one case in 2000 in the general population. The World Health Organisation estimates that there are approximately 7000 rare diseases, most of which are genetic.
These are very heterogeneous diseases that involve practically all areas of medicine. The institute’s activities take shape concretely thanks to multidisciplinary projects that range from basic research to epidemiological research and clinical research, accompanied by a strong commitment to disseminating information and training young researchers.
The rare diseases that the institute focuses on include: Thrombotic Microangiopathies (SEU and PTT), Membranoproliferative Glomerulonephritis, Steroid-Resistant Nephrotic Syndromes.

Offices and laboratories: Ranica

ObJECTIVES

  • Ensure the availability of up-to-date information on rare diseases
  • Promote advances in our knowledge of rare diseases
  • Collect information on significant and functional case studies to aid in the development of research projects
  • Develop multidisciplinary projects (basic research, epidemiological research, clinical research)
  • Study the molecular basis of a number of diseases
  • Characterise biochemical and genetic changes (where or in what?) in order to develop targeted therapies

METHODOLOGICAL APPROACHES

  • Creation of a database to archive information related to rare diseases and patients
  • Maintain disease registers to collect epidemiological data and respond to complex questions thanks to the availability of notizie cliniche and biological samples 
  • Conducting clinical studies to test the efficacy of new therapeutic approaches, either directly – by involving patients who are welcomed in Ranica – or indirectly by taking on a coordinating role in national and international multicentre studies
  • Maintaining a Biobank where biological samples are collected and stored  
  • Conducting genetic and bioinformatic analyses to identify the genes that cause or predispose to the development of rare genetic diseases and to design personalised therapies
Results
  • Creation of a free infomation service for rare diseases that has enabled us to respond to 28707 requests for information from patients, their families and healthcare workers, regarding a total of  1017 rare diseases
  • Creation of 3 rare disease registers that include a total of 2718 patients
  • Creation of a biobank that collects and stores biological samples from 3437 patients and their family members
  • Development of advanced diagnostic competences through the identification of new genes associated with diseases and through the study of the mechanisms responsible for the onset of rare diseases. In our laboratories, we have discovered  897 genetic mutations and studied 131 genes. 

Last updated in December 2019

Current projects

Toward a genetic and pathogenesis driven classification and treatment of primary membranoproliferative glomerulonephritis

Sponsor: Ministero della Salute, DGRicerca e Innovazione in Sanità

Research area: Rare diseases (Glomerulonefrite membranoproliferativa)

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

Sponsor: Kidneeds Foundation

Research area: Rare diseases (glomerulopatia da depositi  di C3)

Undiagnosed rare diseases: a bilateral project Italy-USA

Sponsor: Ministero degli Affari Esteri e della Cooperazione Internazionale

Research area: Rare diseases

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Head
Giuseppe
Remuzzi
Director
Dipartimento di Ricerca Malattie rare
giuseppe.remuzzi@marionegri.it
Staff
No items found.
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