Review – BALKAN CONGRESS FOR RARE DISEASES ROMANIA Cluj- Napoca, June 26-27, “Share an inspired vision in RD”.

Congress Presentation

Services to patients in Europe in the field of rare Diseases: where do we stand ? Ségolène Aymé Orphanet INSERM, Paris, France Balkan congress – Cluj – 26 June 2009

Health surveillance and Rare diseases action: Europe’s challenges Cluj-Napoca, 26th June 2009 Antoni Montserrat Moliner European Commission DG SANCO Health Information Unit 1

EU INITIATIVES TO IMPROVE ACCESS TO CARE FOR RARE DISEASE PATIENTS Christel Nourissier General Secretary, EURORDIS Balkan Congress Rare Diseases_26-27 June 2009

European Policy Actions Cooperation in the field of Rare Diseases “Share an inspired vision in rare diseases” Wills Hughes-Wilson Health Policy Europe, Genzyme Cluj, 26 June 2009 Balkans Congress for Rare Diseases

NATIONAL POLICIES FOR RARE DISEASES IN BALKAN AREA : THE FRAMEWORK Christel Nourissier General Secretary, EURORDIS Balkan Congress Rare Diseases_26-27 June 2009

National Plan for Rare Diseases Romania Dorica Dan – President RPWA/ RONARD BALKAN CONGRESS FOR RARE DISEASES ROMANIA June 26-27, Cluj -Napoca Balkan Congress for Rare Diseases

Rare diseases in Greece: Experience of a referral center M. Speletas, A.E. Germenis DEPARTMENT OF IMMUNOLOGY & HISTOCOMPATIBILITY SCHOOL OF MEDICINE – UNIVERSITY OF THESSALY – Larissa, GR www.immunology.edu.gr

Legal environment of rare disease health policy in Hungary, Kosztolanyi Hun

National Alliance of People with Rare Diseases – Bulgaria Bulgarian National Plan for Rare Diseases Vladimir Tomov

Consilierul psihologic în era post genomică. Soluţii interdisciplinare pentru consilierea genetică în Romania Prof. univ. dr. Daniel DAVID Asist. univ. drd. Ramona MOLDOVAN Conf. univ. dr. Alina RUSU www.clinicalpsychology.ro

TREATMENT AND REHABILITATION , Dr. I. Rotaru

Symptoms of Autism Spectrum Disorders and Rare Diseases Mihaiela-Virginia Fazacas, psychologist Baican Cosmina, special education teacher

DIAGNOSIS AND SCREENING IN RARE DISEASES IN ROMANIA Maria PUIU, Monica Stoian, Dorica Dan, Cristina Skrypnyk, Margit Serban  Medical Genetics, University of Medicine and Pharmacy “Victor Babes”, Timisoara,  RoNARD  Medical genetics, Oradea

The Romanian Prader Willi Association FormRARE – A Multidisciplinary Approach to Rare Diseases Amalia Sabau – psychologist Darius Porumb –social worker

Norwegian-Romanian (NoRo) Partnership for Progress in Rare Diseases  Dorica Dan – presindent RONARD  June 26-27, Cluj -Napoca

Asociatia Prader Willi din Romania Alianta Nationala pentru Boli Rare BALKAN CONGRESS FOR RARE DISEASES ROMANIA June 26-27, Cluj -Napoca Dorica Dan – President RPWA/ RONARD Asociatia Prader Willi din Romania

Werdnig Hoffman Asociation Presentation

Asoc. William Syndrome

PKU LIFE ROMANIA Association The association of the people with Phenylketonuria from Romania

Asociatia Persoanelor Cu Thalasemie Majora

“NU II LASA SA LUPTE SINGURI!” PARKINSON TU CE ŞTII DESPRE IS VISIBLE PARKINSON? MAKE IT LIVABLE!  Campanie derulata de :  Patronatul Farmacistilor din Romania www.pfdr.ro  Asociatia Antiparkinson www.parkinson.home.ro

Romanian Multiple Sclerosis Society Engineer AURORA BORSAN PRESIDENT OF SSMR CLUJ NAPOCA, the 26th – 27th of June, 2009

RARE DISEASE COMMUNITIES A EURORDIS PROJECT: TOWARD AN ONLINE PATIENT COMMUNITY PORTAL FOR RARE DISEASES Christel Nourissier General Secretary, EURORDIS

DIAGNOSIS AND MANAGEMENT OF PATIENTS WITH MENTAL RETARDATION AND MULTIPLE CONGENITAL ANOMALIES – IASI MEDICAL GENETICS CENTER’S EXPERIENCE Rusu Cristina (1), Volosciuc M. (1), Braha E. (1), Butnariu L. (1), Panzaru M. (1), Popescu R. (1), Caba L (1), Ivanov Iuliu (2), Gorduza Vlad (2), Covic Mircea (1) (1) Medical Genetics Centre, “Sf. Maria” Children’s Hospital, Iasi, Romania; (2) Immunology and Genetics Lab, “Sf. Spiridon” Hospital, Iasi, Romania

Alport Syndrome: a challenging diagnosis in clinical practice C.Spânu, C.Crăciun, I. Kacso, M. Crăciun, P.Florescu, E. Bodurian, S.Spânu, Mirela Gherman-Căprioară

NETWORK APPROACH OF THE MANAGEMENT OF PRADER-WILLI AND ANGELMAN SYNDROMES, ROMANIAN EXPERIENCE Maria Puiu1, Natalia Cucu2, Gabriela Anton3, Dorica Dan4, Calin Popoiu5, Valerica Belengeanu1, Monica Stoian1, Cristina Rusu6, Victor Pop7, Corin Badiu8 1. University of Medicine and Pharmacy “Victor Babes” Timisoara, Romania 2. Department of Epigenetics, Faculty of Biology Bucharest 3. National Institute of Virusology, Bucharest 4. Romanian Association Prader-Willi, Romanian Aliance of Rare Diseases 5. Clinical Hospital of Emergency for Children “L. Turcanu” Timisoara 6. University of Medicine and Pharmacy “T. Popa” Iasi 7. University of Medicine and Pharmacy “I. Hatieganu” Cluj- Napoca 8. National Institute of Endocrinology, Bucharest

Conf. dr. Eusebiu Vlad Gorduza1, Asist. dr. Cristina Skrypnyk2 1 Medical Genetics Department, “Gr. T. Popa” University of Medicine and Pharmacy Iaşi; 2 Medical Genetics Department, Faculty of Medicine, University of Oradea

Living with Pompe Disease Sharing Experiences Maryze Schoneveld van der Linde Cluj – Napoca, Romania, 27 June 2009

“Mechanisms and assays for rare genomic disorders” Cristina Skrypnyk University of Oradea, Faculty of Medicine and Pharmacy, Genetics Department

Fabry disease: results of the enzyme replacement therapy with agalsidase beta C. SPÂNU, C. DRUGAN, C.NIŢĂ, S.SPÂNU, C. CRĂCIUN, M. RADU,V.TODEA, M. GHERMAN- CĂPRIOARĂ Cluj, Romania

EVOLUTION OF TYPE 1 GAUCHER DISEASE PATIENTS TREATED WITH IMIGLUCERASE Paula Grigorescu-Sido1) , Camelia Al-Khzouz 1) , Cristina Drugan 2), Simona Bucerzan 1) , Cristina Coldea 1) 1)Genetic Diseases Center –Emergency Children Hospital , First Pediatric Clinic Cluj 2) Biochemistry Department of University of Medicine and Pharmacy “Iuliu Hatieganu” Cluj

National Cystic Fibrosis Center Timişoara Clinic II Pediatrics – University of Medicine and Pharmacy “Victor Babeş” Timişoara IMPORTANCE OF THE NATIONAL CYSTIC FIBROSIS NETWORK- THE EXPERIENCE OF NATIONAL CYSTIC FIBROSIS CENTRE TIMIŞOARA

A European Network of Centres of Expertise for Dysmorphology DYSCERNE is funded by the European Commission Public Health Executive Agency (DG Sanco) Project: 2006122 – A European Network of Centres of Expertise for Dysmorphology DYSCERNE – A Network of Centres of Expertise for Dysmorphology