Research projects (completed and ongoing):

Project 05_07 GSF
ILLUMINA

Partnership with :

Mario Negri - Istituto di ricerche farmacologiche

Seat: Pharmacological Research Institute “Mario Negri”
Facility: Clinical Research Institute for Rare Diseases “Aldo e Cele Daccò” c/o “Villa Camozzi” (Ranica-BG)
Bursary: 15.000 euros/year
Year: from 2007
Invested funds:  20.000,00 euros
Duration: ongoing
Aim of the research:
to identify new gene mutations that can cause focal glomerulosclerosis. The project is named after a new technology, illumina, which allows to study more than 1.000.000 polymorphisms present in the human genome. This technology will be used to study the genome of patients affected by GSF. In this way, it will be possible to identify genetic loci where there might be a gene connected to GSF. Afterwards, these loci will be sequenced, searching for the mutations. This new nanotechnology will be applied to the study of both familial and sporadic forms of GSF.

Project 04_07 GSF
SEMINAR STEM CELLS

Seminar
“HAEMOPOIETIC STEM CELLS TRANSPLANT: CURRENT ROLE AND FUTURE PROSPECTS”

On 22nd November 2007, the Foundation “La Nuova Speranza-ONLUS” organised a seminar on the topic “haemopoietic stem cells transplant: current role and future prospects”. The seminar was open to all the patients affected by focal glomerulosclerosis and their parents, as well as to people working in this field and to anyone interested in it.

The speakers of the conference were:

  • Dr. L. Ghio, Department of Nephrology, Dialysis and Paediatric Transplant at the “De Marchi” Clinic (Milan)

  • Dr. A. Edefonti, Department of Nephrology, Dialysis and Paediatric Transplant at the “De Marchi” Clinic (Milan)

  • Prof. F. Locatelli, Department of Paediatric Oncohematology, Foundation IRCSS, San Matteo General Hospital (Pavia).

Download seminar leaflet: Seminar

Following this seminar, a teamwork study started among
De Marchi Clinic, Milano (Dr. L. Ghio),
San Matteo General Hospital, Pavia (Prof. F. Locatelli)
University of Pavia (Prof. O. Zuffardi)
Gaslini Institute, Genova (Dr. F. Ginevri)
University of Trieste (Dr. C. Zennaro)

This study is centred on two projects:

  • The first one aims to find new strategies to treat the post-transplant recurrence of GSF, by using mesenchymal stem cells (MSC). The study plans to outline an in vitro model to evaluate the capability of mesenchymal stem cells to modulate the production of the permeability factor by the lymphocytes in patients affected by GSF. After having demonstrated in this model the immune regulatory capability of MSC, a pilot study will be carried out to treat the recurrence of GSF through infusion of MSC.

  • The second one aims to identify the genes engaged in the immune system, which could predispose to the post-transplant recurrence. The presence of CNV (Copy Number Variation), that is a DNA alteration which could be related to the disease, are sought in the samples of human genome of patients affected by GSF, by using the genome-wide array-CGH analysis (array-Comparative Genomic Hybridization), a new and sophisticated technique to analyse the human genome. 

Project 03_06 GSF
GSF GENETICS

Partenership with:

Mario Negri - Istituto di ricerche farmacologiche

Seat: Pharmacological Research Institute “Mario Negri”
Facility: Clinical Research Institute for Rare Diseases “Aldo e Cele Daccò” c/o “Villa Camozzi” (Ranica-BG)
Bursary: 15.000,00 euros/year
Year: from 2006
Duration: 1 year
Aim of the research:
in 2006 the Foundation “La Nuova Speranza-ONLUS” established a partnership, still going on, with the Pharmacological Research Institute “Mario Negri”, specifically with Clinical Research Centre for Rare Diseases “Aldo e Cele Daccò” c/o “Villa Camozzi” (Ranica-BG).
In this institute, the study of genetic causes of the focal glomerulosclerosis and of possible new treatments has been going on for years.
In order to favour the ongoing work in this centre, the Foundation has established a annual bursary for a lab researcher.

Award: Dr. Bettinaglio Paola.

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Project 02_06 GSF
MULTICENTRIC

Partnership with :

Logo clinica De Marchi De Marchi Clinic

Seat: Foundation IRCSS General Hospital, Mangiagalli and Regina Elena
Department: Nephrology, Dialysis and Paediatric Transplant, “De Marchi” Clinic, via della Commenda 9, Milan
Year: 2006
Duration: 36 months
Invested funds:
15.000,00 euros for an annual bursary
12.000,00 euros in equipment

Researchers:

  • Dr. A. Edefonti, Consultant of the Department of Nephrology, Dialysis and Paediatric Transplant, “De Marchi” Clinic, Milan

  • Dr. E. Torresani, Superintendent of the Department of Medical Pathology, General Hospital, Milan

  • Dr. D. Coviello, Medical Genetics Laboratory, General Hospital, Milan

  • Dr. M. Travi, Medical Genetics Laboratory, General Hospital, Milan

  • Dr. A. Biondi, Department of Paediatrics and Paediatric Haematology, New “San Gerardo” Hospital, Monza

  • Dr. F. Vicenti, UCFS, Department of Surgery, San Francisco; expert in GSF,

  • Dr. G.M. Ghiggeri, Department of Nephrology, Dialysis and Paediatric transplant, Gianna Gaslini Institute, Genova, expert in GSF,

  • Dr. M. Carraro, Department of Clinic Medicine, Hospital Gattinara, Trieste.

Aim of the research:

  • Epidemiologic study on the cases of cortico-resistant nephrotic syndrome from GSF, treated at the Department of Nephrology, Dialysis and Paediatric Transplant, “De Marchi” Clinic, Milan;
  • Etiopathogenetic study through the genetic study, the study on the permeability factor and the immunologic study;
  • Study on proteomics in GSF;
  • Therapeutic protocol  with new monoclinal antibodies and aphaeresis techniques;
  • Follow-up study on the therapeutic response

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Project 01_06 GSF
BURSARY DE MARCHI

Partnership with :

Logo clinica De Marchi “De Marchi” Clinic

Seat: Foundation IRCSS General Hospital, Mangiagalli and Regina Elena (www.policlinico.mi.it) c/o “De Marchi” Clinic, via della Commenda 9, Milan
Department: Nephrology, Dialysis and Paediatric Transplant
Years: 2005-2006
Bursary: 15.000,00 euros/year
Duration: 1 year
Aim of the research:to expand on the genetic and immunologic basis of the disease and to identify a therapeutic protocol to treat post-transplant recurrence of GSF in paediatric patients.
Award: Dr. Elisa Meregalli

Download the bursary memorandum