Rare Diseases Consultation Report was adopted by Parliament today by 383 votes to 116 with 15 abstentions. The report says that the current EU legislative framework is poorly suited to rare diseases and not well defined. Although rare diseases contribute greatly to morbidity and mortality, they are mostly invisible in health care information systems due to the lack of appropriate coding and classification systems.
MEPs want the Commission to present implementing measures by 2012. These should cover inter alia: a) the budgetary measures necessary for the Community Programme on Rare Diseases to be effective; b) the creation of relevant networks of centres of expertise; c) the collection of epidemiological data on rare diseases; d) the mobility of experts and professionals; e) the mobility of patients; and f) consideration of the need for other actions.
Parliament adopted an amendment today which recommends that Member States encourage efforts to avoid rare diseases which are hereditary, through genetic counselling of carrier parents and, where appropriate and not contrary to existing national laws and always on a voluntary basis, through pre-implantation selection of healthy embryos.
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On April 3 2009 a constituent assembly of association of patients with growth hormone deficiency will be held in Sofia. The meeting will start at 9.30 a.m. in hotel “Central”.
The Bulgarian-Japanese Symposium will present and explore the topic “Genomics and Proteomics in Personalized Medicine” on 19–20 March 2009 at Tokuda Hospital, Sofia, Bulgaria. The Bulgarian-Japanese Symposium will bring together people from different scientific and medical backgrounds to provide an open forum for interdisciplinary dialogue on key issues in genomics and proteomics. Prominent international and Bulgarian scientists will present recent advances on the following topics: “Genomics of common disorders”, “Genetics of human pathogens”, “Proteomics”, “Pharmacogenomics and personalized medicine”. For more information visit the official site of the event.
Mrs. Zorka Parvanova, Bulgaria’s First Lady and Official Patron of all Rare Diseases Day 2009 events in Bulgaria, expressed her full support and compassion to all rare diseases patients and their families. Mrs. Parvanova thanked the National Alliance of People with Rare Diseases and the Information Centre for Rare Diseases and Orphan Drugs for their activities, one of the results of which is the adoption of the National Programme for Rare Diseases 2009-2013. To read the letter, please click here.
On February 28 a prayer service will be held at St. Marina Orthodox Church in Plovdiv as part of the events for Rare Diseases Day 2009. Organiser is the Association of HAE patients with the support of the Information Centre for Rare Diseases and Orphan Drugs.
On 24 – 25 January 2009 representatives of parent and patient organisations for genetic and rare diseases from 11 Central and Eastern European countries (Poland, Bulgaria, Czech Republic, Turkey, Croatia, Slovenia, Bosnia, Romania, Russia, Slovakia, Estonia), assembled in Prague
to discuss the common problems and needs of people with genetic and rare conditions in this region, as well as to establish the plan and programs needed to address those needs. They have founded the Central and Eastern European Genetic Network (CEEGN) with aim to raise
awareness and promote the need for early diagnosis and treatment of genetic diseases, medical genetic services, research and development for the causes and cures of these diseases, education of public, patients and science, in CEE countries in order to alleviate the burden of genetic conditions for individuals, families and communities, with the ultimate goal to improve the quality of life of patients and their families in those countries. To read the declaration adopted at the meeting, please click here.
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For second consecutive year on EURORDIS initiative the European Rare Diseases Day (February 28) will be marked in over 20 countries in Europe, America and Asia. A large number of events are scheduled in Bulgaria. On February 23 a press-conference will be held at BTA. Representatives of the National alliance of people with rare diseases, the Information centre of rare diseases and orphan drugs, patient associations will attend on it. On February 28 local activities are expected in 5 of the largest cities in Bulgaria (Sofia, Plovdiv, Pleven, Stara Zagora, Sliven). The culmination of the day will be a charity concert at the National Palace of Culture in Sofia. Bulgaria’s First lady – Mrs. Zorka Parvanova is the official patron of all the events.
A new disease profile is added to our database – Papillon Lefevre Syndrome. The Papillon-Lefevre syndrome (PLS) is a rare genodermatosis of autosomal recessive inheritance manifesting as palmer plantar hyperkeratosis with periodontitis. Genetic analysis of several affected families (kindreds) suggests that the disorder may result from changes (mutations) of a gene that regulates production of an enzyme known as cathepsin C. The gene is located on the long arm (q) of chromosome 11 (11q14). The profile was written by our consultant in dental medecine – Dr. Vesela Stefanova, DD.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Tetrathiomolybdate, a copper chelator for the treatment of Wilson disease, pulmonary fibrosis and other indications. (IDrugs. 2008 Aug;11(8):592-606.). Authors are Medici V Sturniolo GC from the University of California, Davis, Division of Gastroenterology and Hepatology, Department of Internal Med, Sacramento, CA 95817, USA. Tetrathiomolybdate (TTM) is a copper chelator that has also demonstrated antiangiogenic, antifibrogenic and anti-inflammatory actions in preclinical studies. In a phase III clinical trial, TTM stabilized neurological function in patients with Wilson disease, causing significant recovery in 81% of patients at 3 years post initiation of therapy; a second phase III trial was ongoing at the time of publication. TTM is predicted to most likely find a niche in the therapy of Wilson disease, for which current treatment options are limited. To access the full abstract of the article, click here.