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

Dr Edmund Jessop (United Kingdom)

Building a European policy addressing citizens’ needs

• Dr Jessop’s presentation

Yann Le Cam (Europe)

Patients’ needs and Expectations concerning access to health services - The EurodisCare3 study

• Mr Le Cam’s presentation

Birthe Holm (Denmark)

Paving the road for integrated policies - The Rapsody workshops outcomes

• Presentation-Birthe Holm.pdf

Dr Celeste Bento (Portugal)

Red blood cells disorders diagnosis and prevention - experience of the Congenital Anemias Unit - Hematology Department in Centro Hospitalar de Coimbra, Portugal

Keywords: red blood cell (RBC) disorders; Prenatal diagnosis; Hemoglobinopathies screening

Summary: The Congenital Anemias Unit, Hematology Department, Centro Hospitalar de Coimbra (CHC), Portugal, is a reference center for red blood cell (RBC) disorders. A multidisciplinary team provides the diagnosis, medical advice, treatment and prevention of the severe forms. Among the severe forms Thalassemia intermedia, Sickle cell disease and PK deficiency are the most frequent. We performed several prenatal diagnosis studies on these pathologies and also on TPI deficiency, sideroblastic anemias and congenital pure red cell aplasia.We implemented a Hemoglobinopathies screening program in the central region of Portugal. Severe forms of RBC disorders are relatively rare and should be investigated and treated in clinical/laboratory units with technical expertise and clinical experience.

• RedBloodCellsBENTO-poster.pdf
• Red Blood Cells Bento-abstract.doc

Dr Victoria Cret (Romania)

The outcome of haemathological parameters and organomegaly under Imyglucerase treatment in Romanian Type 1 Gaucher patients

Keywords: Type 1 Gaucher disease, Romanian patients, Imyglucerase treatment, outcome

Summary: ERT with Imyglucerase in Romanian type 1 Gaucher patients for a mean of 28 month shows a significant improvement of haematological parameters and organomegaly

• CRET-poster.pdf
• CRET-abstract-pdf

Dr Sofia Douzgou (Italy)

Outcome of genetic counselling: the experience of a single centre in Italy

Summary: We re-evaluated 1020 sessions held by the same team of clinical geneticists through a homogeneous procedure, in an attempt to provide some insight into quality assessment of the genetic counselling service.

• Douzgou-poster-pdf
• Douzgou-abstract-doc

Dr João Lavinha (Portugal)

Controlling sickle-cell syndromes in Portuguese-speaking Sub-Saharan African populations: role of the Portuguese health system in a trans-continental patient mobility context

Keywords : Sickle-cell, sub-Saharan Africa, prenatal diagnosis, mobility

• Lavinha-poster-pdf
• Lavinha-abstract-doc

Prof. Licinio Manco (Portugal)

Genetics of red blood cell enzyme deficiencies in Portugal: mutation profile on PK, G6PD, P5’N and TPI deficiencies

Keywords: red blood cell enzyme deficiencies; PK, G6PD, P5’N and TPI deficiencies; gene mutations

Summary: We performed the molecular characterization of 101 unrelated Portuguese patients with PK, G6PD, P5’N-I and TPI deficiencies. Gene mutations were identified establishing genetic profiles in Portugal and improving the knowledge of red blood cell enzyme deficiencies

• Manco-poster-pdf
• Manco-abstract-doc

Dr Annarosa Soresina (Italy)

Italian Network for Primary Immunodeficiencies (IPINET): an Useful Operative Model for Rare Diseases

Keywords: immunodeficiencies multicenter network; web based system; quality of care

Summary : The IPINET web-based system is an interesting operative model applied for rare diseases research and clinical care. It is a national network of Centers of expertise and non-specialized centers, that produces, shares and updates disease-specific diagnostic and therapeutic protocols, improving the quality of care and the quality of life for patients with Primary Immunodeficiencies

• Soresina-poster-pdf
• Soresina-abstract-doc

Dr Damien Sternberg (France)

Perspectives, difficulties and achievements of RESOCANAUX, the six-year-old collaborative french network dedicated to diagnosis and research about skeletal muscle channelopathies

Keywords : channelopathy, periodic paralysis, myotonia congenita, paramyotonia, Andersen-Tawil syndrome, electromyography, therapeutic trial, diagnostic test

Summary : The six year activity of RESOCANAUX network has enabled to set up and make a extensive use of high-quality electromyographic and genetic diagnostic tools that will be the basis of the evaluation and stratification of future therapeutic trials.

• Sternberg-poster-pdf
• Sternberg-abstract-doc

Prof.Joan-Luis Vives Corrons (Spain)

ENERCA - European Network for Rare and Congenital Anaemias

Summary: The European Commission, through their Directorate for General Health and Consumer Protection, is funding the ENERCA Project. Each of its members has been individually chosen to provide expert experience and advice. The main objective is to improve the communication between specialists and to establish a support network for them. This is done through the
ENERCA WEBSITE: To provide patients and their families with a reliable information source in their language so they are better equipped to understand their condition.

• ENERCA-poster-pdf
• ENERCA-abstract.doc

Dr Roberto Zarrabeitia (Spain)

The Spanish Hereditary Haemorrhagic Telangiectasia (HHT) Unit

Summary: Hereditary Haemorrhagic Telangiectasia (HHT) or Rendu Osler Weber (OMIM 187300/600376/601011/610655) is a rare disease with autosomal dominant inheritance causing vascular dysplasia leading to telangiectasias and arteriovenous malformations. Clinical criteria to diagnose HHT are based on the presence of epistaxis, telangiectasias, internal organ involvement and familiar history (Shovlin et al. Am J Med Genet 2000;91:66-7). Several HHT centres have been created worldwide sponsored by the HHT International Foundation.

• Zarrabeitia-abstract-doc