Workshop has been conceived and organized to provide the participants with the latest scientific information on Neural Tube Defects (NTDs). We have invited some of the most important scientists in the field, providing them with an opportunity to share their most recent data in a format that will promote discussion and scientific interplay. We have gone to lengths to highlight the mechanisms involved in the pathogenesis of NTDs. While these anomalies seem to be unknown to a wide segment of the general public, they are one of the most common of all human congenital anomalies, with an incidence of 1 NTD per every 1000 live births. For this reason, we want to increase awareness of new knowledge in this field. We will focus our attention on the most recent advances in: human embryology and the mechanism of neural tube formation, mouse models of NTDs, gene-environment interactions, folate metabolism and epidemiology, and efforts to move our findings from the mouse to the identification of human NTD risk genes.

Our goal is develop a scientific program that meets the needs and interest of a broad audience of researchers, medical geneticists, neurologists and pediatricians working in the field.




November 12-13, 2004

dia Benedettina della Castagna



Evento organizzato nell’ambito della

Ricerca Finalizzata Ministeriale 2003

Convenzione n. 128











Friday 12


  8.15      Registration of participants

  9.00      Opening ceremony


Human embryology an mechanism

of neural tube formation

Coordinator: Roberto Ravazzolo, Andy Copp


  9.30      Armando Cama
Introduction to Neural Tube Defects

  9.45      Paolo Tortori-Donati

                From embryology to human CNS malformations

10.05      Discussion

10.15      John B. Wallingford

                Cell polarity and neural tube closure

10.35      Discussion


10.45      Coffee break

Mouse Models of NTDs

Coordinator: Richard Finnell, Valeria Capra


11.15      Antonello Mallamaci
Emx2 mastrers regional specification and areal growth of the cerebral cortex primordium

11.35      Discussion

11.45      Andrew Copp

                Using mouse models to understand the mechanisms of neural tube defects

12.05      Discussion

12.15         Phil Stainer

The role of epithelial cell polarity genes in neural tube defects

12.50     Discussion


13.00     Lunch


Gene-environment interactions

Coordinator: Generoso Andria, John Scott


14.00     Gary Shaw

Folate genes, maternal folate intake, and risks of spina bifida

14.20     Discussion

14.30     Edward Lammer

Genetic variants of N-Acetyltransferases (NATs) and folate-preventable birth defects

14.50     Discussion

15.00     Richard Finnell

                Embryonic consequences of abnormal folate transport

15.20      Discussion

15.30      Henk Blom
Genetic defect of folate (or homocysteine) metabolism and risk for NTD

15.50      Discussion


16.00      Coffee break


From mouse to human genes

Coordinator: Edward Lammer, Henk Blom


16.30      Helga Toriello

                Human neural tube defects and syndromes

16.50      Discussion

17.00      Giuseppe Martucciello

                Visceral innervation in caudal regression syndromes

17.20      Discussion

17.30      Valeria Capra

                Genes in caudal regression syndrome

17.50      Discussion


Saturday 13

Folate metabolism and epidemiology

Coordinator: Gary Shaw, Richard Finnell


9.30        Nicholas Greene

Interactions of environment and genetic mutations in determining NTD susceptibility in mice

9.50      Discussion

10.00     John Scott

Polimorphisms in folate related genes and the risk of neural tube defects

10.20     Discussion


10.30     Coffee break


11.00     Generoso Andria

Metabolism of sulfur-containing amino acids and folates and correlations with Down syndrome

11.20     Discussion

11.30     Patrizia De Marco

NTDs as a multifactorial disease: case controls studies and their limitations

11.50        Discussion

12.00     Laura Mitchell

Identifying maternal and embryonic genetic determinants of NTD risk

12.20        Discussion


12.30     Concluding remarks

                Final test (for Italian CME credits)






The workshop is open to biologists medical doctors, medical genetists, neurologists and pediatricians. Only 80 applicants will be admitted.

Deadline for registration: October25, 2004.

Fill in the attached form and return it to the organizing secretariat

Regular registration fee : € 200,00 + € 1,29 for stamp duty

Reduced fees:  € 100,00 + € 1,29 for residents and Gaslini staff.

The registration encloses scientific programme, book of abstracts, coffee breaks and lunches, attendance certificate. It can be paid after confirmation of admission from the organizing secretariat.


Badia Benedettina della Castagna
Via Antica Romana della Castagna, Genova- Quarto

How to reach the venue

Plane: from the Int. Airport C. Colombo take shuttle bus n. 100 (runs every 30') to Genova Brignole, where you can take bus n. 17 and get off in Corso Europa in front of Via della Castagna.

Train: get off at Genova-Brignole railway station and can take bus n. 17, get off in Corso Europa, in front of Via della Castagna

Car: motorway exit Genova-Nervi, take Corso Europa toward the City centre, turn right in Via Schiaffino, pass the Hotel AC and ESSO gas station on the right, after 50 mt take a right into a narrow road, Via della Castagna, go straight 80 mt, enter the gate on the right leaving the church on the left and follow signs for parking.


Owing to the various events planned for “Genoa, Capital of Culture 2004”, it might be difficult to find a room. Please make your arrangements well in advance.

Special rates have been arranged at the following hotels near the Badia:
Hotel AC**** Europa                                 010 3760703

(from which you can reach the venue of the course by foot)           

Hotel Astor****Nervi                           010 3728325


Italian CME have been required for biologists and medical doctors.

Directors of the workshop

Cama Armando IRCCS G. Gaslini , Genoa

Capra Valeria IRCCS G. Gaslini , Genoa


Invited speakers

Andria Generoso, Naples

Blom Henk, Nijmegen

Cama Armando, Genoa

Capra Valeria, Genoa

Copp Andrew, London

De Marco Patrizia, Genoa

Finnell Richard H., Houston

Greene Nicholas, London

Lammer Edward, Oakland

Mallamaci Antonello, Milan

Martucciello Giuseppe, Genoa

Mitchell Laura, Houston

Scott John M., Dublin

Shaw Gary, Berkeley

Stainer Phil, London

Toriello Helga, Grand Rapids

Tortori Donati Paolo, Genoa

Wallingford John B., Austin


Scientific Organizing Committee

Cama Armando, Genoa

Capra Valeria, Genoa

Dagna Bricarelli Franca, Genoa

De Marco Patrizia, Genoa

Finnell Richard, Houston

Ravazzolo Roberto, Genoa


Under the auspices of:



Organizing Secretariat

Manuela Aloe, M. Caterina Cogorno
International School of Pediatric Sciences
IRCCS G. Gaslini

L.go G. Gaslini, 5
16147 Genova
tel +39 010 5636.554/.805 fax 010 3776590
e-mail: sisp@ospedale-g