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Laboratory of Rare Diseases Documentation and Research

The Laboratory has been established whit the aim to collect different skills to support patients with rare diseases. Since the beginning of the activities, a Database for rare diseases was created with updated information for patients, their families and professionals. Specific research projects has been developed for some rare conditions such as familial and recurrent forms of Hemolytic Uremic Sindrome (HUS) and Thrombotic Thrombocytopenic Purpura (TTP), Fabry disease, Alport Syndrome, Takayasu arteritis, hereditary nephrotic syndromes.
During the years the Laboratory role has changed, because of the major attention on rare diseases developed at the Institutional level.
In 2001 it has been nominated 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. All the information regarding the activities of the Coordinating Centre are available at the web site: http://malattierare.marionegri.it


Research Report 2017


Selected publications

  • Code: 15934
    Iatropoulos P, Noris M, Mele C, Piras R, Valoti Elisabetta, Bresin E, Curreri M, Mondo E, Zito A, Gamba S, Bettoni S, Murer L, Fremeaux-Bacchi V, Vivarelli M, Emma F, Daina E, Remuzzi G
    Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome
    Mol Immunol 2016; 71: 131-142
    IF: 3.236
    Status: Published
    PubMed icon
  • Code: 15539
    Daina E, Cravedi P, Alpa M, Roccatello D, Gamba S, Perna A, Gaspari F, Remuzzi G, Ruggenenti P
    A multidrug, antiproteinuric approach to Alport syndrome: a ten-year cohort study
    Nephron Clin Pract 2015; 130: 13-20
    IF: 1.471
    Status: Published
    PubMed icon
  • Code: 13643
    Daina E, Noris M, Remuzzi G
    Eculizumab in a patient with dense-deposit disease
    N Engl J Med 2012; 366: 1161-1163
    IF: 51.658
    Status: Published
    PubMed icon
  • Code: 10152
    Bresin E, Daina E, Noris M, Castelletti F, Stefanov R, Hill P, Goodship T H J, Remuzzi G, International Registry Recurrent Familial HUS/TTP
    Outcome of renal transplantation in patients with non-Shiga toxin-associated Hemolytic Uremic Syndrome: Prognostic significance of genetic background
    Clin J Am Soc Nephrol 2006; 1: 88-99
    Status: Published
    PubMed icon
  • Code: 10184
    Vanoli M, Daina E, Salvarani C, Sabbadini M G, Rossi C, Bacchiani G, Schieppati A, Baldissera E, Bertolini G, ITAKA Study Group
    Takayasu's Arteritis: A study of 104 Italian patients
    Arthritis Rheum 2005; 53: 100-107
    IF: 7.421
    Status: Published
    PubMed icon