3 – 5 April 2003
Organizers I.K. Hart (Liverpool, UK)
L. Lorusso (Chiari, Italy)
M.D. Cappellini (Milan, Italy)
Sponsors Associazione Neurologici Bresciani (Brescia, Italy)
Aventis S.p.A. (Milan, Italy)
Baschirotto Institute for Rare Diseases (Longare, Italy)
Europe Orphan-Drugs (Milan, Italy)Serono S.p.A. (Rome, Italy)
Sigma Tau S.p.A. (Rome, Italy)

Rare diseases
Session I Organization, legislation, and networks of rare diseases in Europe Thursday
Chairs G. Benzi – EMEA (London, UK) & S. Aymé (Paris, France) Abstract No.
10.00 – 10.20 The role of patients’ organisations in Europe
M. Lipucci di Paola – Eurodis (Paris, France)
10.20 – 10.40 From information to research
A. Schieppati (Ranica, Italy)
10.40 – 11.00 The National Centre for Rare Diseases and the Italian Network: public health strategies
D. Taruscio (Rome, Italy)
11.00 – 11.15 coffee break
11.20 – 11.40 Up-date on the development and availability of orphan medicinal products in the European Union
G. Benzi – EMEA (London, UK)
11.40 – 12.00 Role of information services
S. Aymé (Paris, France)
12.00 – 12.20 From concept to patient: a need for continuity in orphan drug policy
A. Rappagliosi (Geneva, Switzerland)
12.20 – 12.40 Baschirotto Institute for Rare Diseases: research and care for rare diseases
G. Baschirotto (Longare, Italy)
12.40 – 13.00 Orphan drugs for children
J. Llinares-Garcia – EMEA (London, UK)
13.00 End of Session I
13.00 – 14.00 Lunch / poster viewing
Chairs A. Schieppati (Ranica, Italy) & D. Taruscio (Rome, Italy) Abstract No.
15.00 – 15.25 Update of mutations in the heme biosynthesis genes in Italian patients affected by different porphyrias
F. Martinez di Montemuros, E. Di Pierro, E. Patti, D. Tavazzi, M.G. Danielli, G. Fiorelli, and M.D. Cappellini (Milan, Italy)		 112
15.25 – 15.50 Role of hereditary complement deficiency in autoimmunity
C. Gasparetto, D. Gritti, A. Malinverno, P.G. Prosperini, R. Malinverni, and G. Ricevuti (Pavia, Italy)		 109
15.50 – 16.15 Four novel mutations in the uroporphyrinogen decarboxylase gene in Italian patients with familial porphyria cutanea tarda
F. Martinez di Montemuros, D. Tavazzi, S. Fargion, M.G. Danielli, G. Fiorelli, and M.D. Cappellini (Milan, Italy)		 110
16.15 – 16.30 coffee break
16.30 – 16.55 Molecular analysis of the PPOX gene in Italian patients with variegate porphyria: identification of 3 novel mutations
F. Martinez di Montemuros, E. Patti, E. Di Pierro, E. Rocchi, G. Biolcati, A. Canavese, G. Fiorelli, and M.D. Cappellini (Milan, Italy)		 111
16.55 – 17.20 Isolation of Pasteurella multocida subsp. multocida from chronic periapical inflammatory lesia (first isolation in Yugoslavia)
L. Suvajdžic, D. Ljubomir, S. Hrvacanin, and M. Bokor (Novi Sad, Yugoslavia)		 113
17.20 – 17.45 An Italian family with atypical Chloride Channelopathy
M. Gamba, L. Lorusso, V. Sidoti, P. Bernasconi, M. Moretti, and R. Besana (Milan, Italy)		 108
18.00 End of presentation of abstracts
Session II Diagnosis and therapy of rare diseases Friday
Chairs M.D. Cappellini (Milan, Italy) & G. Merlini (Pavia, Italy) Abstract No.
10.00 – 10.20 Problems and pitfalls in the diagnosis of rare diseases: the case of systemic amyloidoses
G. Merlini (Pavia, Italy)
10.20 – 10.40 Classification of phaeochromocytoma: the molecular basis and clinical relevance
H.P. Neumann (Freiburg, Germany)
10.40 – 11.00 Chronic fatigue syndromes – how rare are they?
J. Parkin (London, UK)
11.00 – 11.15 coffee break
11.20 – 11.40 Is acetyl carnitine a life-saving drug for RETT Syndrome?
M. Calvani (Rome, Italy)
11.40 – 12.00 The acute porphyrias
J.C. Deybach (Colombes, France)
12.00 – 12.20 Enzyme replacement therapy for lysosomal storage diseases
S. Portolano (Modena, Italy)
12.20 – 12.40 Cellular gene therapy in primary immunodeficiencies
M.G. Roncarolo (Milan, Italy)
12.40 – 13.00 Traditional therapy towards gene therapy
A. Munnich (Paris, France)
13.00 End of Session II
Session III Neurological rare diseases Saturday
Chairs C. Soto (Santiago, Chile / Geneva, Switzerland) & I.K. Hart (Liverpool, UK)
10.00 – 10.20 Rare neurological diseases: from classification and diagnosis to research as a model for understanding common disorders
A. Federico (Siena, Italy)
10.20 – 10.40 Molecular basis of prion disorders
C. Soto (Santiago, Chile / Geneva, Switzerland)
10.40 – 11.00 Ion channel diseases
L. Lorusso (Chiari, Italy)
11.00 – 11.15 coffee break
11.20 – 11.40 Rasmussen’s encephalitis: a model for autoimmunity in common epilepsies?
I.K. Hart (Liverpool, UK)
11.40 – 12.00 Genetic aspects of ALS/MND diseases
A. Malaspina (London, UK)
12.00 – 12.20 European 5th Framework: clinical & research on paraneoplastic neurological syndromes
B. Giometto (Padova, Italy)
12.20 – 12.40 Uncommon forms of neurodegenerative dementias
A. Padovani (Brescia, Italy)
12.40 – 13.00 Neuropathy of rare diseases
F. Scaravilli (London, UK)
13.00 End of workshop