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Rare Diseases Biobank

The Daccò Center has focused on rare diseases since 1992. It concentrated on organizing disease registries as tools not only to collect epidemiological data, but also to answer complex questions, providing clinical data and links with dedicated biobanks. At the end of December 2014, samples from 2244 patients with rare conditions, and their families, had been collected in the biological materials biobank.

Research in the field of rare diseases is mainly dedicated to:

  • Thrombotic Microangiopathies. Hemolytic Uremic Syndrome (HUS) and Thrombotic Thrombocytopenic Purpura (TTP), are two closely related rare diseases causing microangiopathic hemolytic anemia and thrombocytopenia with signs of renal (most prevalent in HUS) and cerebral (most prevalent in TTP) damage.
    Since 1996, coordinated dedicated registry has assembled data from about 1100 patients, from around 100 Italian and 80 European and non-European centers.

  • Membranoproliferative Glomerulonephritis.  Membranoproliferative glomerulonephritis (MPGN) is an uncommon cause of chronic nephritis that occurs mainly in children and young adults. Children with MPGN have an unfavorable prognosis and develop end-stage renal failure (ESRF) during late childhood or early adolescence.
    Since 2006, the laboratory has coordinated the MPGN registry, with the following aims: to collect clinical data and samples from patients with familial or sporadic MPGN; to study the genetic and biochemical abnormalities of MPGN; to provide the best therapeutic approach for each patient. Biological samples from about 250 patients with MPGN have been collected.

  • Steroid-Resistant Nephrotic Syndrome. Steroid-Resistant Nephrotic Syndrome (SRNS) is an uncommon cause of chronic renal disease mostly diagnosed in children and young adults. SRNS is thought to be caused by a primary defect in the glomerular filtration barrier, since it does not respond to corticosteroid immunosuppressive therapy (the first-line treatment in NS).
    A registry collecting clinical data from patients and their relatives and studying genetic abnormalities in SRNS was created in 2007. Data and biological samples from 315 patients have been assembled.

The Rare Diseases biobank also stores samples from patients with other rare conditions (including Fabry disease, Alport syndrome and Gitelman syndrome).
Coordinator: Erica Daina, raredis@marionegri.it