REGION OF SARDINIA - PROVINCE OF CAGLIARI - MUNICIPALITY OF CAGLIARI
RARE DISEASES
Marfan Syndrome
New treatment strategies
27 November 2010 - 9.00 hrs
Thotel Cagliari - Via Dei Giudicati
A.S.M. Sardegna O.N.L.U.S.
Sardinian Association for the Study of Marfan Syndrome
Via Dell’Abbazia , 4 - 09129 Cagliari, Italy - Tel. and Fax + 39 070 41179
Cell phone 389 0748204 - 340 7528072 - 338 6806262
email: marfanangioletti@tiscali.it
TIN 92144110928
Tax identification number for donating the 5 per thousand (from the Italian tax return) to the association.
ORGANISING SECRETARIAT: Kassiopea Group
Via G. Mameli, 65 - 09124 Cagliari - Sardegna (Italy) -
Tel. + 39 070 651242 - Fax + 39 070 656263
cristinabodano@kassiopeagroup.com - www.kassiopeagroup.com
PROGRAMME
Rare Diseases: Marfan Syndrome
New treatment strategies
27 November Thotel Cagliari
09.00 - Giulia Santandrea - President, A.S.M. Sardegna Onlus (Non-profit Association)
Welcome address, presentation of the Conference and of the Association
GREETINGS BY THE AUTHORITIES
09.20 - SPEAKERS:
Emilio Floris
Mayor of Cagliari
Enrico Garaci
President, Italian National Health Institute
Antonio Angelo Liori
Regional Health Minister
Angela Maria Quaquero
Head of the Social Policies Department, Province of Cagliari
Anselmo Piras
Head of the Social Policies Department, Municipality of Cagliari
Emilio Simeone
General Manager of the Cagliari Health Service
Ombretta Fumagalli Carulli
President of the Dossetti Association
Aldo Costanzo
Representative of Telethon
FIRST SESSION:
Moderators: Giulia Santandrea, Giorgio Steri
09.50 - Eloisa Arbustini
Genetic bases of and new gene-based treatment strategies for Marfan Syndrome
10.35 - Loredana Boccone
Marfan Syndrome: Clinical Aspects
10.55 - Mauro Costaglioli
Spinal Deformities in Marfan Syndrome
11.10 - Stefano Cervellati
Surgical Treatment of Spinal Deformities in Marfan Syndrome
11.40 - Coffee Break
12.00 -Renzo Galanello
Presentation of the Rare Disease Network initiative
12.15 - Roberto Tumbarello
Cardiovascular Abnormalities in Marfan Syndrome
12.35 - Manuela Gherardini
Eye Conditions in Marfan Syndrome
12.50 - Valeria Setzu
Limb alterations in Marfan Syndrome
13.10 - Miriana Fresu
Physical Medicine and Marfan Syndrome
13.30 - Lunch
SECOND SESSION:
Moderators: Giulia Santandrea, Giorgio Steri
14.30 - Teresa Peltz
Radiology of Marfan Syndrome
14.50 - Claudia Santandrea
Assisting Marfan Syndrome Patients and their Families: Issues and Challenges
15.10 - Luisa Gasperini
Impact of Genetic Diseases on Parenthood (Psychological aspects)
15.30 - Contributions from the Associations:
- Association J Peter Onlus - President Maria Carla Favini
- Association Giuseppe Dossetti - National Secretary Claudio Giustozzi
- Provincial Forum of Associations of Persons with disabilities - President Dr Giorgio Latti
- Auxilia - Sardegna Onlus - Dr. Carta Rossana
- FIABA - Italian Foundation for the Elimination of Architectural Barriers - President Giuseppe Trieste
16.30 - General Discussion
17.00 - Filling of Questionnaire and Test.
SCIENTIFIC RATIONALE
The Marfan Syndrome is a rare genetic disease, which involves alteration of connective tissue, i.e. the tissue that holds together the various organs of the body. Consequently, the disease affects different organs and tissues.
It has an incidence of one in 5000 live births; in 50% of cases it is inherited from a parent, whereas 30% of cases result from a new mutation in the gene that triggers the disease. The consequences of this mutation can be devastating and to date there is no cure for it.
During the person’s life, the main problems concern the cardiovascular system: the principal one is undoubtedly aortic root dilatation (or aortic aneurysm). As of today, there is no treatment able to cure the disease as a whole. However, treatments can target specific organ systems, especially at cardiovascular level. A useful class of drugs for instance are beta-blockers, which have been used for a number of years to slow down the progression of aortic dilatation, although in the past no large-scale randomised clinical trials have been carried out yielding conclusive evidence-based data.
The aim of the conference is to illustrate the state of the art on diagnosis and clinical phenotypes, and on strategies and indications for medical and surgical treatment.
The conference is organised so as to favour interaction among moderators, speakers and participants, in order to make this educational event truly useful for physicians (to better understand the needs and problems of patients and their families) and for patients (to improve their life and help them deal with the disease more effectively).
List of Speakers and Moderators:
Santandrea Giulia - President
Association for the Study of Marfan Syndrome - CAGLIARI
Santandrea Claudia - Vice President
Association for the Study of Marfan Syndrome - CAGLIARI
Arbustini Eloisa
Cardiovascular Genetic Disease Centre - IRCC San Matteo Hospital Foundation - PAVIA
Boccone Loredana
Clinical Genetics and Rare Disease Unit - II Paediatric Clinic - Hospital for Microcythemia - CAGLIARI
Cervellati Stefano
Hesperia Hospital - MODENA
Costaglioli Mauro
S. Elena Clinic - Spine Surgery and Scoliosis Unit - Quartu S.E. - CAGLIARI
Fresu Miriana
Rehabilitation Medicine Unit - Orthopaedics and Traumatology Centre Iglesias - Sirai Carbonia - CARBONIA
Galanello Renzo
2nd Paediatric Clinic - Biomedical and Biotechnology Department - University of Cagliari - Regional Hospital for Microcythemia - CAGLIARI
Gasperini Luisa
Municipality of Cagliari
Gherardini Manuela
University Clinic - University Hospital - CAGLIARI
Peltz Teresa
G. Brotzu Hospital - CAGLIARI
Setzu Valeria
Hospital for Microcythemia - CAGLIARI
Steri Giorgio
Public Health and Hygiene Service, Cagliari Health Service
Tumbarello Roberto
Paediatric Cardiology, G. Brotzu Hospital - CAGLIARI
Carta Rossana
Auxilia Sardegna Onlus - CAGLIARI
Favini Maria Carla
Association J Peter Onlus - VARESE
Claudio Giustozzi
Non-Profit Cultural Association “Giuseppe Dossetti: Values - Advocacy and Protection of Rights” - ROME
Giorgio Latti
Provincial Forum of Associations of Persons with Disabilities - CAGLIARI
Trieste Giuseppe
FIABA Association - ROME
GENERAL INFORMATION
Conference Venue
The conference will be held on 27 November 2010 at Thotel, Via Dei Giudicati, Cagliari.
Tel 070 4740 - Fax 07047405026 - Switchboard 070 51091
Registration fee
Registration and participation in the conference is free of charge.
You are kindly requested to complete and submit the registration form attached to the programme not later than 15 November 2010.
Applications will be accepted in order of submission for a maximum total of 100 physicians, 50 physical therapists and 30 social workers.
After receiving the duly completed registration form, the organising secretariat will confirm your registration subject to availability.
Continuing Education in Medicine credits
An application has been lodged with the Ministry of Health for award of Continuing Education Credits for physical therapists and medical doctors belonging to the following categories: general medicine, cardiology, orthopaedics and traumatology, and paediatrics. A request for award of training credits has also been submitted for social workers.
Issue of the training credits is subject to participation in the whole conference and to completion of the final test questionnaire.
Certificates of Attendance
At the end of the conference, all regularly registered participants will receive an Attendance Certificate.
ORGANISING SECRETARIAT:
Kassiopea Group
Via G. Mameli, 65 - 09124 Cagliari - Sardegna (Italy)
Tel. + 39 070 651242 - Fax + 39 070 656263
cristinabodano@kassiopeagroup.com - www.kassiopeagroup.com
Rare Diseases:
Marfan Syndrome
New treatment strategies
27 November 2010 - 09-00 hrs
Thotel Cagliari - Via dei Giudicati
A.S.M. Sardegna O.N.L.U.S.
Sardinian Association for the Study of Marfan Syndrome
Via Dell’Abbazia , 4 - 09129 Cagliari
Tel. and Fax + 39 070 41179
Cell phone 389 0748204 - 340 7528072 - 338 6806262
e-mail: marfanangioletti@tiscali.it
TIN 92144110928
Tax identification number for donating the 5 per thousand (from the Italian tax return) to the association.
REGISTRATION FORM
Use one form per person.
Please complete in block letters and send by fax by 15 November 2010 to the Organising Secretariat Kassiopea Group Srl, via Mameli 65 - 09124 Cagliari, fax no. 070.656263 - email: cristinabodano@kassiopeagroup.com
PROFESSIONAL ADDRESS
Role1___________
Surname _________First name
Tax Identification Number ____________ Place and date of birth_____________
Occupation2_________Discipline3_______________
Telephone_________ Cell phone_________ e-mail address__________
Street ________
City___________Postcode__________ Province
Institute/Hospital/University/ Health Authority/Agency/
Ward/Department/Clinic/Unit/Division
HOME ADDRESS
Street ________
City___________Postcode__________ Province
Telephone_________ Fax*_________ e-mail address*__________
* Required fields for receiving registration confirmation
I hereby register for the Conference “Rare Diseases: Marfan Syndrome”
Date_________Signed___________
Data Processing Consent Notice pursuant to Legislative Decree 196/2003 (Personal Data Protection Code)
Pursuant to Legislative Decree 196/2003, with regard to the personal data you provided in the registration form, we wish to inform you that it will be necessary to forward such data to third parties (partner congress organisation and shipping agencies, associations and other parties collaborating in the organisation of this event).
Failure to provide your consent to such processing of your data will make it impossible to accept your application.
By signing this consent form, you authorise Kassiopea Group, pursuant to Article 23 of Legislative Decree 196/2003, to process your data. In particular, by signing this consent form, you confirm you have carefully read Article 13 of Legislative Decree of Legislative Decree 196/2003, in particular relating to the purpose and manner of the data processing and any other provisions contained therein.
Date_________Signed___________
(1) Your role in the conference: P= Participant, D= Teacher, T= Tutor, R= Speaker
(2) Your occupation must be one of the professions for which Continuing Education in Medicine is required.
The full list of such professions is available in the sheet “Professions and disciplines”.
(3) The discipline must be indicated only by medical doctors, veterinarians, pharmacists, biologists, chemists and physicists, and must be the discipline practiced by the professional. The full list of discipline is available in the sheet “Professions and disciplines”.
