Posters on Services to Patients, Families and Carers

The European Branch of the Severe Chronic Neutropenia International Registry: Genetic and Phenotypic Characteristics of a Heterogenous Group of Disorders

Cornalia Zeidler, Germany

Cystic Fibrosis in Europe - remote measurement of outcome

Anil Mehta, United Kingdom

The Fabry International Network (FIN) Fabry patient survey

Lut De Baere, Belgium

European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service

Jean-charles Deybach, France

Norvegian-Romanian (NoRo) Partnership for Progress in Rare Diseases

Dorica Dan, Romania

Big Brother Big Sister (BBBS) Program

Robert Pleticha, Romania

Research in rare diseases, a common effort of professionals and patients in Romania

Maria Puiu, Romania

The Italian Registry of Membranoproliferative glomerulonephritis: an important tool for investigating the pathogenesis of a rare disease

Arrigo Schieppati, Italy

A web-based system for the prescription, delivery and monitoring of treatments for rare diseases patients: the experience of the Veneto Region Coordinating Centre for Rare Diseases

C. Minichiello, Italy

A Web-based information system as a tool for the clinical management and support of rare disease patients: the example of amyotrophic lateral sclerosis (ALS)

S Manea, Italy

An information service on rare diseases: the experience of the Coordinating Centre for Rare Diseases of the Veneto Region

M Mazzucato, Italy

Evaluation of Population Newborn Screening Practices for Rare Disorders in Member States of the European Union

L Vittozzi, Italy

The Swedish Rare Disease Information Database

Christina Greek-Winald, Sweden

The Italian National Centre for Rare Diseases: the experience of the Telephone Helpline

A Polizzi, Italy

WHO international classification of diseases (ICD) revision process: incorporating rare diseases into the classification scheme - A state of the art

Ségolène Aymé, France

Genetic testing in Europe: transborder testing is a necessity

M. Jovanovic, France

Rare diseases research in Europe:
an overview based on data from the Orphanet database (Nov 2009)

N Martin, France

New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare disease community

V. Hivert, France

EURORDIS Summer School for patient advocates in clinical trials and drug development

Maria Mavris, France 

ORPHANDEV, a Clinical Trials Network Dedicated to Orphan Drugs and Therapeutics Development for Rare Diseases

Yolande Adjibi, France

The profession of Integration Assistant and the AFM Regional Services

Tuy Nga Brignol, France

How a motivation program can affect treatment compliance in a rare disease? Results of a questionnaire-based, self-reported study to evaluate “Life Club CF”, a programme intended for patients with cystic fibrosis

Marcin Mikos, Poland

Psychologicalaspects of living with rare disease:development of psychological skills of rare disease patients. how to improve patients` quality of life by developing psychological skills necessary to cope with the disease.

Jolanta Wierzba, Poland

Primary Immunodeficiencies [PID]: driving Diagnosis for Optimal Care in Europe

Mrs Marta Czerniawska, Belgium

European effort for the improved diagnostics of rare primary immunodeficiency disorders.

Anna Berglöf,Sweden

People with rare diseases Common experiences

Lisbet Grut, Norway

Health Status in Women with Turner Syndrome – a questionnaire study on health status, education and work participation

Eva Elisabeth Naess, Norway

E-Learning for carers

Olga Solberg, Norway

Ageing amongst individuals with invisible disorders: The importance of patient organizations

Vigdis Hegna Myrvang, Norway

Social Profiles, a dialogue tool

Lene Jensen, Denmark

Creating CONNECTIONS through Co-operation in Finland

Paajanen, Finland

Molecular characteristics of the Niemann-Pick type C Polish patients

Anna Boguszewska-Chachulska, Poland

How to teach medics about Rare Diseases?

Michal Skoczylas, Poland

The patients’ organizations of children with primary immunodeficiency in Poland

Ewa Bernatowska, Poland

Polish Registry of Congenital Malformations - an useful tool of rare diseases surveillance countrywide

A Latos-Bielenska , Poland

Caregiver assistance in treating mitochondrial diseases in children

Mihael Rogac, Slovenia

Evidence-based information guides to rare chromosome disordersfor families and professionals

Dr Beverly Searle, United Kingdom

DYSCERNE: Presenting a Methodology for Developing Clinical Management Guidelines for Rare Diseases

K Strong, United Kingdom

Cell therapies for Duchenne muscular dystrophy (DMD): some ethical issues for personalised medicines

Pauline McCormack, United Kingdom

Identifying Alkaptonuria (AKU) in the population at large. Challenges and solutions

L Ranganath, United Kingdom

Ageing in rare, chronic diseases

Cees Smit, the Netherlands

The care as perceived by individuals with Shwachman Diamond Syndrome (SDS) in Canada, Italy, Netherlands, United Kingdom and United States

Liesbeth Siderius, the Netherlands

Information Centre for Rare Diseases and Orphan Drugs in Bulgaria

Rumen Stefanov, Bulgaria

EU Clinical trial regulation in the environment of rare diseases: Time for a change

Martine ZIMMERMANN, ALEXION

APTIC: A Social Network to Improve the Quality of Life of Patients’ Associations Members

M Armayones, Spain

Resource creation for neuromuscular disease information management

Elena Sánchez Trigo, Spain

Rare Diseases in ARGENTINA: Survey of physicians’ knowledge, practices and opinion

R Armando, Argentina

Rare Diseases in Argentina: what a survey of families tell us about the diagnosis process

M. Liljesthröm, Argentina

LIVING WITH OI Fragile bones but unbreakable spirit

Ute Wallentin, Germany