Marina Noris PhD

Marina Noris has in-depth expertise in rare genetic renal diseases, particularly in rare complement related kidney diseases. In this field Dr. Noris greatly contributed to discovering the genetic causes of an atypical hemolytic uremic syndrome (aHUS), describing the mutations in genes encoding complement regulatory proteins, factor H, membrane cofactor protein and thrombomodulin and their functional consequences. Her discoveries have been described in a number of publications in high impact journals, including The Lancet, Blood, the Journal of the American Society of Nephrology and the New England Journal of Medicine. Her research also clarified that the specific genetic defect has a great impact on the clinical course of this disease and on the risk of disease recurrence after kidney transplantation and contributed to the recent achievement of a specific cure with the anti-C5 antibody Eculizumab (approved by EMEA and FDA).

In 2010 her laboratory was accredited by Regione Lombardia and the Italian National Health Service as a reference center for biochemical and genetic diagnostic tests in patients with aHUS and TTP and in 2015 the accreditation was extended to C3G/MPGN, steroid-resistant nephrotic syndrome, and PKD. On July 2017 the laboratory received the ISO 9001/2008 certification for biochemical and genetic analysis in patients with rare diseases.

Her group also discovered the genetic cause of very rare renal disease, the glomerulopathy with fibronectin deposits and a new genetic form of childhood-onset familial FSGS associated with a mutation in the myosin 1E gene. Using next-generation sequencing technology her group has identified a new genetic form of recessive steroid-resistant nephrotic syndrome (SRNS) associated with mutations in the myosin 1 E gene. Dr. Noris has been invited to hold lectures at a number of National and International Congresses and is author and co-author of more than 200 scientific articles, reviews, and monographs.