6th European Conference on Rare Diseases & Orphan Products - 23 to 25 May 2012 - Brussels, Belgium - Posters
Posters
Theme 1: National Plans for Rare Diseases
No posters availableTheme 2: Centres of Expertise & European Reference Networks
EB-CLINET - Clinical Network of EB Centres and ExpertsPohla-Gubo
The ENERCA White Book for the creation of a European Reference Network (ERN) on Rare Anaemias
Maria del Mar Mañú Pereira, Laura Olaya Costa, Pilar Nicolá
Building European Reference Networks for Rare Diseases
Thomas Wagner, Sophie Buchberger
Building a Community
Paola Facchin
Haemochromatosis in children is a rare, severe but curable genetic disease-an important reason for EFAPH to help setting up a European Reference Network (ERN)
Françoise Courtois, Pierre Brissot, Barbara Butzeck
Theme 3: Information & Public Health
How AFM (Association Française contre les Myopathies) optimise its Helpline ServiceTuy Nga Brignol, Françoise Colomb
The informed patient - adapted, accessible and correct information abour rare diseases
Gunilla Jaeger, AnnCatrin Röjvik, Jan Engström
MYOBASE (www.myobase.org) A BILINGUAL BIBLIOGRAPHIC DATABASE IN THE FIELD OF NEUROMUSCULAR DISORDERS IMPLEMENTED BY AFM (Association Française contre les Myopathies)
Christiane Bel
The study of rare diseases in Spanish university education-teaching and research in Psychology, Social Sciences and Humanities
Samantha Requena
Interdisciplinary selection of didactic contents for exercise in pediatrics about congenital heart defects in the evaluation of teacher and medical students
Michal Skoczylas, Jacek Rudnicki, Beata ?oniewska
The Swedish Rare Disease Database and the Swedish Information Centre for Rare Diseases
Christina Greek Winald
KNOWING TO ASSIST
Gaetano Piccinocchi, Angelo Selicorni
SIO Helpline
Rosa Sanchez de Vega
Theme 4: Research from Bench to Bedside
Report from the International Collaborative Calciphylaxis network (ICCN, calcific uremic artiolopathy registry)Rabea Wagstaff, Vincent Brandenburg, Markus Ketteler
CoDeLaGe-Translational cohort study on self-injurious behaviour in Cornelia de Lange Syndrome
Sylvia Huisman, Raoul Hennekam
CIBERER programme for exome sequencing applied to Rare Diseases
Francesc Palau
CIBERER-5 year outcomes of translational research on Rare Diseases
Francesc Palau
The use of imitation as a strategy to support communication between a congenitally deafblind child with Trisomy13 and her parents
Sini Peltokorpi
EuroGentest-Harmonisation, validation and standardisation in genetic testing
Valerie De Groote, Gert Matthijs
Diagnostic and counselling dilemmas in rare disease newborn screening related to the detection of atypical mutations: example of cystic fibrosis
Milan Macek
But how are YOU doing. Being a double-carer: How family carers with spouse and children with a rare disorder experience their health and well-being
Lise Beate Hoxmark, Grete Hummelvoll, Stefen Torp
Empowering patient organisations
Marianne de Groot
Empowering patient organisations poster text
Marianne de Groot
Reflection on patient advocacy organizations’ participation in research
Sharon Gibsztein, Lise Beate Hoxmark, Lisbet Grut
Metabotropic glutamate receptor subtype 1
Tamar Barbakadze, Lali Shanshiashvili, Davit Mikeladze
Registry of Patients with Primary Immunodeficiencies (PID) in Greece-a Systemic Approach
Penio Kassari, Nikitas Assimakopoulos, Maria Kanariou
Role of a patient association in research programs-the SOS Desmoide experience
Karine Le Bobinnec, Marieke Podevin, Nicolas Penel
Fraser syndrome-data on a rare genetic syndrome in European population
Ingeborg Barisic, Ljubica Odak, Maria Loane
Cystic fibrosis carrier screening-customer satisfaction study
Letizia Ditta, Sarah Egiziano, Lucia Bartolini
Theme 5: Orphan Products & Rare Disease Therapies
AKU Society-Curing a rare genetic disorderOliver Timmis, Nick Sireau
European Patient Access Program for Drug Therapy in Idiopathic Pulmonary Fibrosis
Klaus-Uwe Kirchgässler, Christophe Giot
Exploring the potential of Rapamycin (Sirolimus) in patients with beta-thalassemia
Marco Prosdocimi, Roberto Gambari
Augmenting PBGD expression in the liver as a Novel Gene therapy for Acute Intermittent Porphyria
Gloria Gonzalez-Aseguinolaza, Mark Sefton, Eduardo Salido
Our experience in providing home self-administered therapy with pdC1INH to HAE patients
Maria Bova, Angelica Petraroli, Massimo Triggiani
RARE DISEASE PATIENT ORGANISATIONS-A NEW APPROACH FOR REPORTING OF ADVERSE DRUG REACTIONS
Edna Meneses
Theme 6: Patients’ Empowerment
European patient poster campaign to enhance recruitment into clinical trials-Part 1 where do my rare disease medicines come fromAnne Munck, Lee Tim WR, Anil Mehta
Patient experiences contribute to medical guideline development in cystic fibrosis
Wilhelm Bremer
PHENYLKETONURIA IN GEORGIA: PROBLEMS AND SOLUTIONS
Lali Margvelashvili, Oleg Kvlividze, Tamar Chigladze
Theme 7: Rare Disease Patient Groups Innovations
Consensus "Pathways of Care" as a mean to an endHanka Meutgeert
Practical experience of an association facing too rare diseases
Philip Maes
Beta-sarcoglicanopathy- any longer an orphan disease?
Beatrice Vola, Roberto Maggi, Marco Perlini
FANTASIA RESTAURANT
Renza Galluppi
Friendship camp
Robert Veres
Orphan Europe Recordati Group & Hole in the Wall volunteering programme to support life-changing experiences to children with serious medical conditions
Terence Dignan, Samantha Parker, Robert Pleticha
HTAP France, the French Patient Organization for Pulmonary Arterial Hypertension, completed a study in order to evaluate the non pharmacological care of PAH in France
Melanie Gallant-Dewavrin, Sylvain Reydellet
Theme 8: Other/open topic
The Diagnostic OmbudsmanAnnalisa Bisconti, Luigi Bonavita
A novel approach for improving awareness for differential diagnosis in rare retinal degenerations
Frank Stehr, Ulrich Kellner, Klaus Ruether
MSS wiki: Crowd sourcing-Part 1
Henk-Willem Laan, Adam Shaw, Raoul Hennekam
MSS wiki: Crowd sourcing-Part 2
Henk-Willem Laan, Adam Shaw, Raoul Hennekam
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