Istituto di Ricerche Farmacologiche Mario Negri

Istituto di Ricerche Farmacologiche Mario Negri

Istituto di Ricerche Farmacologiche Mario Negri
Via La Masa 19
20156 Milan
Italy

www.marionegri.it

Project Leader

Prof. Giuseppe Remuzzi

Prof. Giuseppe Remuzzi
Leader of WP5
Phone: + 39 035 421 3404
Fax: + 39 035 31 3931
Contact

Project Staff

Dr. Marina Noris
Head of Laboratory of Immunology and Genetics of Transplantation and Rare Diseases
Phone: + 39 035 453 5362
Fax: + 39 035 453 5377
Contact

Dr. Caterina Mele
Researcher
Phone: + 39 035 453 5355
Fax: + 39 035 453 5377
Contact

Paraskevas Iatropoulos MD
Researcher
Phone: + 39 035 453 5324
Fax: + 39 035 453 5373
Contact

Elena Bresin MD
Head of Genetics for Clinical Research Unit
Phone: + 39 035 453 5355
Fax: + 39 035 453 5373
Contact

Roberta Donadelli, Biol. Sci. D.
Head of Genetics and Molecular Basis of Renal Diseases Unit
Phone: + 39 035 453 5364
Fax: + 39 035 453 5377
Contact

 

The team at CRCRD.

Institute Presentation

IRFMN is a non profit foundation for research and education in biomedicine. Beside the original institute in Milan, there are affiliated centers in Bergamo and S. Maria Imbaro. In Bergamo the Institute has two centers: Anna Maria Astori and the Clinical Research Center for Rare Diseases (CRCRD). The 100 investigators of the CRCRD (biologists, geneticists, pharmacologists, bioengineers, informatics, nurses and technicians) are involved in pathophysiology, genetic and pharmacology studies in rare diseases and in large-scale, multicentre trials that involve more than 4000 patients. The Centre leads the International Registry of Recurrent and Familial HUS and TTP that has collected more than 840 cases of atypical HUS and TTP referred from 100 Italian and 80 European and extra-European Centres. The Center also coordinates the Italian Registries of MPGN, with more than 100 patients with DDD, MPGN I and C3GN, and of SRNS with 160 patients. Clinical and laboratory data, family history and biological samples are collected from all patients and their available relatives for the biochemical and genetic analyses by researchers at the Center. The maintenance of a centralised bank of biological samples ensures the availability of clinical material for new investigative approaches as they will be developed.

Prof Remuzzi has contributed to the treatment of HUS and TTP with innovative strategies, including the combined liver and kidney transplantation, the bilateral nephrectomy and treatment and prophylaxis with Rituximab. Prof Remuzzi and Dr Marina Noris contributed to clarify the genetic causes of aHUS describing the association of  CFH, MCP and THBD mutations with aHUS and the role of CFH SNPs in disease predisposition. Moreover this group has contributed to the identification of genetic causes of TTP and characterized the functional consequences of CFH (in collaboration with Partner 15), MCP and ADAMTS13 mutations. They have also obtained important information on the influence of genotypes on response to therapy and outcome of kidney transplantation. Remuzzi, Noris and their co-workers have gained large experience in next generation sequencing and  recently described MYO1E as SRNS-associated gene and described the functional consequences of the mutations in vitro and in vivo.

The Laboratory of Immunology and Genetics of the CRCRD is equipped with liquid chromatographs, spectrophotometers, radioactivity counters, light and fluorescence microscopes, a confocal microscope, 4 apparatus for cell and tissue cultures, 6 PCR machines, 2 real time PCR, ELISA 96 well reader, a DHPLC, FACS analyzer and FACS sorter, an apparatus for semiautomatic chromatographic purification of proteins and all the other standard laboratory instruments. Two Sanger sequencers (a 3130XL and 3730), and a NGS (Ion Torrent), based on Ion Semiconductor Sequencing technology, are also available. The Laboratory has an animal care facility with ko and transgenic mice including cfh-/- mice.

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