Rare Diseases

Head

Giuseppe

Remuzzi

Director

Dipartimento di Ricerca Malattie rare

giuseppe.remuzzi@marionegri.it

Staff

No items found.

Senior Advisor

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 (HUS/TTP), 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

Implementation of a free of charge information service on rare diseases that had reply to 31,787 requests from patients, family members and health professionals, for a total of 1,054 rare diseases reported
Development of 3 Rare Disease Registries collecting a total of 2,950 patients
Creation of a Biobank that collects and stores biological samples from more than 3,600 patients and their families
Development of advanced diagnostic skills, through the identification of new disease-genes and the study of mechanisms underlying the occurrence of rare diseases. In our laboratories, more than 890 genetic mutations have been found and over 130 genes have been studied.

Data as at December 2021

Current projects

A thorough understanding of the molecular players causing rare complement-mediated glomerular diseases toward a personalized therapy‍

Sponsor: FRRB (Fondazione Regionale Ricerca Biomedica)

Research area: Malattie Rare
‍
Defining stratification of patients with C3 Glomerulopathies /Immunecomplex –mediated glomerular diseases for better diagnosis and tailored treatment (DECODE)‍

Sponsor: FRRB (Fondazione Regionale Ricerca Biomedica – Regione Lombardia)

Research area: Glomerulonefrite membrano proliferativa
‍
Studio degli effetti funzionali di anomalie genetiche identificate nel fattore del complemento C3 in pazienti affetti da Glomerulopatia da C3‍

Sponsor: CSR (Cassa di Sovvenzioni e Risparmio)

Research area: Glomerulopatia a depositi di C3