IAGSA 2001-2005

In the 2001 International meeting on Aicardi-Goutières syndrome
 
Collaboration with Prof. Lebon (Hôpital Saint Vincent de Paul, Paris): measurement of IFN-alpha in CSF and blood plasma.
 
Collaboration with Dr. Crow  (St James’s University Hospital , Leeds , UK ): investigation of genetic aspects within the families of patients with consanguineous parents and within families with two affected siblings.
 
Collaboration with Prof. Izzotti ( University of Genoa ): investigation of mRNA in the CSF of patients for molecular biology study of Aicardi-Goutières syndrome.
 
Collaboration with Prof. Blau (University Children’s Hospital, Zurich ): investigation of neurotransmitters in the CSF and, in particular, analysis of neopterins and biopterins (to date analyses have been carried out on material from three patients).
 
Updating and extension of the Association’s website.
 
Entry of the association in the Register of Rare Diseases in Lombardy and in the National Register of the Italian Superior Health Institute
 
Questionnaire on sleep disorders, sent to all IAGSA families (Italian and foreign) with affected children.
 
Organisation of a “gathering for families" in Alassio (Savona, Italy) in March 2005
 
Agreement with  St. James's University Hospital - Department of Clinical Genetics - Leeds UK, head: Dr Yanick Crow to carry out a research project entitled "SNP analysis of blood samples from affected children"
 
Publication of a report on the 11 Italian cases, accepted by Neurology as a brief communication (in press).
 
Participation at the "XXIII Réunion de la Société Européenne de Neurologie Pédiatrique"  May 2005, Girona, Spain
 
Renewal of agreement with Prof. Izzotti (University of Genoa) to analyse mRNA in the CSF of patients for the purpose of studying the molecular biology of AGS, June 2005.