June-July 2007 This month’s TO-DO list Orphanet partners’ meeting on Monday 26 November in Lisbon The second partners’ meeting in the framework of our RD portal contract will take place the 26 of November in Lisbon. This gathering will be one of several pre-conference workshops taking place before the European Conference on Rare Diseases held on 27-28 November. This meeting will be dedicated to an introduction to all the new V4 functionalities. Therefore it welcomes Orphanet’s information scientists. You are invited to complete the attached registration form, and send it back to Valérie F. If you have problems in doing so, you may contact her after the 16 of August (she will be absent in the office from 18 July to 16 August). Furthermore, we will be happy for you to attend the European Conference. Please let us know as soon as possible if you would like to attend. Orphanet is able to finance your transportation and one night in a hotel in Lisbon. If you plan to attend, DO NOT book your own transportation and accommodations or Orphanet will not be able to reimburse you. You can now visit the European Conference Rare Disease website. We invite you to register and submit a poster abstract. If you need information or data, such as statistics, to write a poster, do not hesitate to contact the Paris team. We draw your attention to the registration deadlines: reduced registration fees are only available before the 31st of July. 1 What we did Spain, Barcelona, May: the Orphanet team visited the Vall d’Hebron Hospital and presented the Orphanet project to the department chairmen. Dr. Miguel del Campo gave a presentation of the project and encouraged the doctors to register their specialised clinics in the Orphanet database. Orphanet-Spain is planning to use this strategy with other tertiary- care hospitals to obtain more data from clinics and research projects. Madrid, 7 May: the Spanish Senate unanimously approved a Request to the Government to establish “clinical genetics” as an independent medical specialty, a category that hasn’t been recognised until now. This initiative will result in the recognition of geneticists by the National Health System followed by the organisation of genetics clinics and genetic counselling services in Spanish hospitals. Rio de Janeiro, Brazil, 17-21 June: Dr. Miguel del Campo, coordinator of Orphanet-Spain and Dr. Luis A Pérez Jurado, Director of the Genetics Department at the University Pompeu Fabra, where the Orphanet-Spain team is located, attended to the “3rd International Conference on Birth Defects and Disabilities in the Developing World” where they gave the following presentations on overgrowth syndromes, Fetal Alcohol Spectrum Disorder, and genetic research and clinical networks: Miguel del Campo, Spain “Sotos syndrome. Precongress course on overgrowth syndromes” Luís Pérez Jurado, Spain “Genetics services in research and clinical networks” Luís Pérez Jurado, Spain “Overgrowth syndromes, chromosomal anomalies and genomic rearrangements” Poland, Lodz, 24-26 May: Jolanta Sykut-Cegielska presented a poster entitled “Rare diseases – Poland in the European network ORPHANET” and a short presentation during the XXIX Meeting of Polish Pediatric Society that included the participation of almost 1,000 pediatricians from all over Poland. 2 Poland, Warsaw, 23 June: A 1-day conference was organised by the Department of Metabolic Diseases, Endocrinology and Diabetology with financial support of SHS International, for the families of the patients with rare diseases requiring low-protein diet, such as: maple syrup urine disease, tyrosinaemia type I, methylmalonic aciduria, propionic aciduria, 3-methylcrotonylglycinuria, 3-hydroxy-3-methylglutaryl aciduria and glutaric aciduria type I. Twenty five families, who came together with their children, were provided with current knowledge about management of the aforementioned diseases, availability of low-protein products (they had an opportunity to try some of these products during lunch time). Dr Jolanta Sykut-Cegielska informed the parents about Orphanet and Orphanet-related activities, particularly about Milor and Eclor services, as currently such patient support groups or parents organisations are lacking in Poland. Two board members from the Polish Association of the Help for Affected by PKU “Ars Vivendi” and the General Director of the Polish Patients Federation encouraged the families to set up formal organisations for families and patients with these rare diseases. Italy, Milan, 24 June: during the meeting “Outcome of Genetic Counseling”, Prof. Dallapiccola illustrated the power and utility of the Orphanet database. Czech Republic, Prague, 2 March: the National working group for the Rapsody project met in Prague at the premises of the State Institute for Drug Control. This workshop was attended by the head of the Czech general insurance company and officials from the Ministry of Health. Altogether, over 40 participants representing patient organisations, physicians and ministry officials were present. All participants were in agreement that the creation of specialised centers for rare disease will greatly facilitate care for patients. Based on the experience of the two specialised centers that have been established in Czech Republic - National centers for the diagnosis and therapy of Gaucher disease and Cystic fibrosis - the organisation of future specialised centers was discussed. 3 Romania, Cluj-Napoca, 21-24 June: The 6th International Prader-Willi Syndrome Scientific Conference and 1st Romanian Prader-Willi Syndrome and Rare Diseases Conference took place in Romania. The conference was organised by The Prader-Willi Syndrome Romanian Association in collaboration with The International Prader-Willi Syndrome Organisation (IPWSO). The conference addressed families and professionals with the purpose of supporting and educating them about Prader-Willi Syndrome, a genetic disorder that affects appetite, growth, metabolism, cognitive functioning, and behavior. At the conference, parents and professionals shared new approaches in dealing with Prader- Willi Syndrome through meetings and programs designed for children and adults with the syndrome and their siblings. The participants came from various countries in Europe and beyond. During the last day, June 24th, the programme focused on rare diseases in general. Participants presented the situation of the rare disease health programs in different countries: - Onorica Abrudan – Vice-Mayor Zalau; Rare Diseases have to be placed at the centre of our policy making Information tools: - Ségolène Aymé- President Orphanet Europe - Role of a patient organisation to spread information: Example of the International Prader-Willi Organisation, Pam Eisen, President IPWSO - The experience of a small foundation: Kindness for Kids; Dr. Anja Frankenberger–Germany - The different national experiences of organisation of care in Europe: Examples from Italy, France and Estonia ,Prof Domenica Taruscio – Italia etc. Orphanet-Romania was present with 2 posters about Orphanet and the following presentation : Approaching rare diseases in Romania, Prof. Dr. Mircea Covic – President Orphanet Romania The project, ROMANIAN NATIONAL ALLIANCE FOR RARE DISEASES – RONARD and the book “Essentials in 101 rare Diseases” were also presented during this section. 4 Hungary, 5 June: Gyorgy Kosztolanyi and Ségolène Aymé had a one-hour meeting with Dr Katalin Rapi, State Secretary of Health in Hungary, in presence of Dr Maria Benyi, Head of Department at the National Centre for Healthcare Audit and Improvement where Janos Sandor (Coordinator Orphanet-Hungary) is working. Ségolène presented the current stage of development of Orphanet and the importance of diffusing this type of information to improve the quality of life of patients. She also introduced the Rare Diseases Task Force activities and the French National Plan for Rare Diseases. As she was once a paediatrician, Mrs. Rapi was very open to all these ideas and was very well aware of the issues of rare diseases in children. She explained, however, that Hungary was a small country, in a convergence phase, meaning that severe budget cuts were recently imposed. There is no more than three physicians currently at the Ministry of Health level. Therefore, she is unable to implement any new measures in favour of patients with rare diseases. However, she is expecting health professionals to set up a project which would be relevant for Hungary in the current context. If the professionals are able to come up with a collective suggestion, she will consider it with great attention. 20 June: György Kosztolányi of Orphanet-Hungary and Peter Brunner, Director of the Division of National Healthcare Inspectorate in National Health Institute moved on the preparation of an institutionalised Orphanet-Hungary, and created a draft for establishing a Rare Disease Unit in the Division of National Healthcare Inspectorate. This Rare Disease Unit will act as part of the University of Pécs. They will turn with this initiation to the newly-elected rector of the University after July 1st, 2007. Switzerland, Bern, 21 June: Dr Loredana D’Amato Sizonenko was invited to the SIAK Network for Cancer Predisposition Testing and Counselling meeting chaired by Dr Pierre Chappuis. It provided the opportunity to introduce and update Orphanet-Switzerland. The audience was very receptive. In addition, as the Orphanet Swiss National Scientific Committee has, at present, no representative for oncogenetics, Dr Loredana D’Amato Sizonenko