Renewal agreement with Genoa University 2005

In February 2005, a meeting of the IAGSA board was held at the "C. Mondino Institute of Neurology" Foundation in Pavia, Italy. At the meeting Prof. Izzotti reported on the progress of the study he is currently leading,  entitled " Molecular epidemiology of Aicardi Goutières Syndrome-Gene expression analysis in CSF cells of AGS patients".

 

There follows a brief explanation

Report by Prof. Izzotti
The research project began in September 2002 and ended in December 2004.
Its aims were to clarify the pathogenesis of AGS and to identify diagnostic molecular
markers for the disease, using an avant-garde technique, i.e., multigene assessment using
cDNA microarray.
There is currently a very active and highly driven group of researchers investigating AGS;
we would like to thank Prof. Lanzi, Prof. Fazzi, Dr Orcesi, Prof. Lebon, Prof. Crow and also
Mrs Boni Longo who, among other things, suggested establishing links with colleagues
from the Neurosurgery Unit at the Gaslini Institute in Genoa, directed by Prof. Cama and
Prof.Capra, who supplied the controls.
Cerebrospinal fluid (CSF) samples were taken from patients with AGS and from unaffected
controls; the expression of 19,000 genes was then evaluated in 20 AGS patients and in 10
controls by means of cDNA microarray.
The first purpose of the study was to investigate the pathogenesis of the disease, and it
was felt that the microarray technique might be useful in this.
A second aim was to identify, in the range of different expressions of AGS, constant
markers which might be useful for diagnostic purposes, particularly in the differential
diagnosis of AGS vs other diseases and, where possible, in the formulation of prognoses.
Finally, a third aim was to identify possible lines of experimental research particularly with
a view to the development of therapies.