European Conference on Rare Diseases - Lisbon November 27 - 28th 2007

Dr Catherine Berens (Europe)

Achievements and perspectives - DG Research Conference outcomes

• Presentation-Berens.pdf

Dr Fabrizia Bignami (Europe)

Expectations and Contributions from patients - The European Workshop outcomes (Capoiera project)

• Presentation-Bignami.pdf

Dr Erik Tambuyzer (Belgium)

Expectations and Contributions from pharma & biotech industry

• Presentation-Tambuyzer.pdf

Dr Francesc Bonet Clols (Spain)

The GITER group and the treatment of rare diseases in Spain.

Keywords: Orphan drugs

Summary: The group GITER focuses on the research of rare diseases therapeutics and have found information about the treatment of 59 diseases and 899 patients, with the collaboration of hospital pharmacies and trough surveys for patients. GITER also develops other activities.

• Bonet-giter-abstract.doc
• Bonet giter poster.pdf

Dr Pedro Alves-Faria, Porto (Portugal)

Ocular manifestations of rare metabolic diseases.

Keywords: Metabolic diseases

Summary: Although an accurate biochemical diagnosis is essential for the diagnosis of this group of diseases, systemic and ophthalmic findings are necessary to make us suspect their existence. The wide range of ocular findings shows how difficult it is to diagnose this group of diseases.

• AlvesFaria-poster.pdf
• Ocular-manifestations-rare-metabolic-diseases-abstract.pdf

Prof Ingeborg Barisic, Dr Visnja Tokic, Dr Maria Loane (Croatia)

Epidemiology of Cornelia de Lange Syndrome in Europe - population based data

Summary: Descriptive epidemiological population-based data on Cornelia de Lange Syndrome from 33 EUROCAT congenital anomaly registries (16 European Countries). Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome characterized by the specific facial dysmorphism, hypertrichosis, upper limb deficiency, intrauterine growth retardation, developmental delay and a variety of associated malformations. The particular clinical features make severe forms of the syndrome easily recognizable.

• Barisic-poster.pdf
• Epidemiology-CorneliadeLange-syndrome-in-Europe.pdf

Dr Peter Corry (United Kingdom)

Major variations in the prevalence of autosomal recessive disorders: lessons from Bradford

Keywords: Autosomal recessive, ethnic variation, resources, research

Summary: Very high rates of autosomal recessive disorders have been identified in British Pakistani communities. Increases are likely in other minority community groups in Europe. Health authorities must recognise that prevalence varies considerably and target resources at areas of need. Appropriate and sensitive measures for prevention should be considered. However, there are opportunities to target both clinical and genetic research.

• Corry-poster.pdf
•  Major variations in the prevalence of autosomal recessive disorders abstract.doc

Teresa Fidalgo (Portugal)

Mutational and multimeric study in patients with types 2 von Willebrand’s Disease (vWD2)

Keywords: Von Willebrand Disease type 2

Summary: Functional, multimeric and molecular characterization of 10 unrelated patients with vWD2 attending to Centro Hospitalar Coimbra Haemophilia Centre.

• Mutational and multimeric study in patients with types 2 von Willebrand-abstract.doc
  

Paolo Lanzi (Italy)

En-rbdd Research Networks

Keywords : European network for rare bleeding disorders database

Summary : Database application and security for the EN-RBD Project

• en-rbd-poster.pdf
• en-rbd-abstract.pdf
   

Cecilia Lazea, Paula Grigorescu-Sido, Camelia Al-Khzouz (Romania)

Possibilities of evolution in distal renal tubular acidosis - observation of two patients in a family

Summary: Distal renal tubular acidosis is a rare genetic disease with the possibility of a favourable outcome.

• Lazea-poster.pdf
• Possibilities-evolution-in-distal-renal-tubular-acid.pdf  

Stephen Lynn, Volker Straub, Kate Bushby (United Kingdom)

Translational Research in Europe - Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD)

Summary: The TREAT-NMD (Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases) network of excellence is an FP6-funded project that aims to address the fragmentation across Europe that currently hinders translational research for new cutting-edge therapies in rare inherited neuromuscular disease. 

• Stephen-Lynn-poster.pdf
• Treat-nmd-abstract.pdf

Dr Ole B. Suhr, Umeå University Hospital, Umeå (Sweden)

THAOS - Transthyretin-Associated Amyloidoses Outcomes Survey, A New Global, Web-Based Registry
New orphan drug development

Keyword: Transthyretin, Transthyretin-associated amylodosis

Summary: THAOS is a new global, multi-center, longitudinal observational survey (registry) designed to characterize the variability, progression, and natural disease history, regional differences in disease expression, and the genotypic-phenotypic relationship in TTR amyloidosis.

• Thaos poster
• THAOS abstract.doc

Saliha Yilmaz, Hervé Fontaine, Karène Brochet (France)

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X-chromosome array-CGH

Summary: This study reports for the first time the use of a full coverage X-chromosome array to screen for imbalances in 18 Aicardi syndrome patients.

• Aicardi poster
• Aicardi syndrome-abstract-doc

Elena Bresin, Silvia Maria Gasparini, Arrigo Schieppati (Italy)

An International Network for Recurrent and Familial Forms of Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura

Summary : The aim of this project is to improve the knowledge on the pathogenesis of these disorders and in particular to identify genetic and biochemical factors predisposing to the development of recurrent, atypical forms of HUS /TTP and also to provide genetic counselling and help in the clinical management.

• Poster.pdf
• Abstract.pdf