LND Famiglie Italiane ONLUS
The Association of Italian families involved
in the fight against the Lesch-Nyhan
SUPPORT THE INITIATIVES OF FAMILIES. We need your help.
MAKE A DONATION!
Meeting on Lesch-Nyhan Syndrome [ Saturday, February 18th, 2012 ]



GENERAL INFORMATIONS

The meeting is mainly addressed to doctors and specialists taking care of persons affected by Lesch-Nyhan Syndrome; no registry is available for this disorder in Italy, nor have any therapeutic protocol or guideline been developed . Psychological, cognitive and learning aspects will not be dealt with, since the complexity of such items will require a dedicated meeting.

The present meeting is open to relatives, rehabilitators and care givers. The attendance is free of charge. The certificate of attendance will be provided when requested.

Scientific Coordination

Antonio Federico
Director - Department of Neurological Sciences and Behavior, University of SienaMaja Di Rocco Responsible for Rare Disease Unit U.O.S. Istituto Giannina Gaslini - Genova

Domenica Taruscio
Direttore Centro Nazionale Malattie Rare Istituto Superiore di Sanità. Presidente ICORD. Coordinatore EPIRARE

CHAIRMEN

Franca Dagna Bricarelli
Coordinatore Dipartimento Ligure di Genetica Genova

Domenica Taruscio
Direttore Centro Nazionale Malattie Rare Istituto Superiore di Sanità. Presidente ICORD. Coordinatore EPIRARE

PROGRAMME

09.30 Maja Di Rocco Introduction

10.00 Antonio Federico Lesch-Nyhan disorder and central nervous system involvement

10.30 Gian Marco Ghiggeri General medical aspects and nephrological problems

10.45 Maria Rosa Caruso Calculosis in Lesch-Nyhan Disease

11.00 Vanna Micheli Biochemical and molecular diagnosis

11.30 Giovanni Abruzzese From pharmacological therapy to rehabilitation

12.00 Coffee break

12.15 Enrico Calcagno -Lara Di Salvatori Lesch-Nyhan syndrome Odontostomatological aspects

ROUND TABLE

12.45 Chair:Domenica Taruscio
Lesch-Nyhan disorder registry
Discussion

14.00 Conclusion and handing over of certificates of attendance


SPEAKERS

Giovanni Abruzzese
Dipartimento di Neuroscienze, Oftalmologia e Genetica dell’Università di Genova

Enrico Calcagno
Dirigente medico U.O. di Odontoiatria Istituto Giannina Gaslini di Genova. Responsabile I.A.S. Centro Cure Odontoiatriche per disabili.

Maria Rosa Caruso
U.O.Nefrologia e Dialisi – Ospedali Riuniti Bergamo

Maja Di Rocco
Responsabile U.O.S. Malattie Rare, Istituto Giannina Gaslini, Genova

Antonio Federico
Direttore Dipartimento di Scienze Neurologiche e del Comportamento Università degli studi di Siena

Gian Marco Ghiggeri
UO Nefrologia, Dialisi, Trapianto, Istituti Giannina Gaslini, Genova

Vanna Micheli
Dipartimento di Biotecnologie Sezione di Biochimica e Biologia Molecolare Università di Siena

 
 
Attachments
BROCHURE
(in Italian)
 
LND Famiglie Italiane ONLUS on the web:
 
Syndrome
Introduction
Diagnosis
Documents
Stories
  Association
Presentation
Executive
Scientific Committee
Statute
  Initiatives
In progress
Archive
  Support
Make an offer
Associate with LND
Merchandising
  News
In progress
Archive
  Links   Contacts   Legal
Disclaimer
Privacy Policy
Cookie Policy
www.lesch-nyhan.eu
Associazione LND Famiglie Italiane ONLUS
All Rights Reserved | Fiscal code 95145920104 | info@lesch-nyhan.eu
web site created byToday Studio