BAPES 2011 Activity Report has been added to the Publications Section of our website. You can find there detailed information on our 2011 projects and events, as well as to get acknowledged with our 2012 plans. BAPES and ICRDOD would like to thank to all rare diseases stakeholders, who have supported and contributed for these achievements.
Two new rare diseases patient associations have been recently established in Bulgaria – the Pituitary Association and the Association of Crohn Disease Patients. These organisations will definitely make the voice of rare diseases patients in Bulgarian louder and will help better communicate and collaborate with the other rare diseases stakeholders on national level. ICRDOD welcomes the teams behind these two projects and wishes them successful work on rare diseases issues. You can find more about them in our Patient Organisation Section.
Osteogenesis imperfecta (OI), sometimes known as brittle bone disease or Lobstein syndrome is a genetic bone disorder. Aiming to improve awareness and professional qualification of medical professionals, Assoc. Prof. Dr. Violeta Yotova and her team from the Children’s Endocrinology Clinic (University Hospital “St. Marina”, Varna) are organising an international OI workshops for young pediatric endocrinologists from Bulgaria, Turkey, Serbia, Romania and Poland. The event will take place on 28 April 2012 at Romance Hotel at St. Constantine and Helena Resort. OI leading specialist from UK, Belgium, Poland and Bulgaria will be present their experience and expertise. A special gust would be Ms. Ute Wallentin from OI Federation Europe.
Bulgarian OI patients and their families are also invited to attend the meeting. It would be an opportunity for them to get in touch with the recent development in OI topics, as well as to establish an OI patient association, representing them before the Bulgarian institutions. “St. Constantine and Helena” Foundation will provide a free of charge accommodation of patients and their families during the event. Patients are kindly asked to confirm their participation in advance by e-mail to nahrb.varna@abv.bg or by phone to +359 (0)889 324 216.
Mesothelioma is a rare type of cancer that affects the mesothelium – the thin, protective membrane that covers the lungs, heart and other internal body organs. The disease is most commonly caused by exposure to asbestos fibers. Mesothelioma is more common in men than in women, and risk increases with age. While there is no cure for mesothelioma, various clinical trials are studying the disease and several cases of remission have been reported. Most mesothelioma patients may not even realize they have cancer until symptoms start to interfere with their daily lives. Symptoms generally don’t appear until at least 20 years after someone was exposed to asbestos, and sometimes symptoms are hidden for as long as 50 years. To help people understand mesothelioma, the Mesothelioma Center offers information on asbestos, mesothelioma and other cancers that are caused by asbestos exposure. It also presents details on treatment options, leading mesothelioma doctors and cancer centres. For more information, please visit www.asbestos.com.
The Bulgarian National Alliance of People with Rare Diseases is organising a Balkan patient meeting on 24 March 2012 in Sofia. Leading rare diseases experts will take part in the event. The meeting will be conducted in both Bulgarian and English languages. There is no registration fee, but participants are asked to confirm attendance in advance by an e-mail to tomov@raredis.org.
The Washington University in St. Louis (Missouri, USA) is currently establishing a Neurofibromatosis Type 1 (NF1) Registry. NF1 patients or parent/guardian of a child with NF1 are eligible to join the registry. Registry questionnaire is going to collect information, that would help doctors and researchers better understand the range of medical and social problems, experienced by children and adults with NF1. Registry organisers have employed state-of-the-art methods to protect participants’ information, including storing all data on secure computer servers and obtaining a Certificate of Confidentiality from the National Institutes of Health (NIH). NF1 patients may access the study here. The information gained from your participation may one day help doctors develop personalised treatments that improve the quality of life for individuals living with NF1.
Rare Disease Day 2012 official celebration will be held on 29 February from 10.30 a.m. in Hall 11 at the National Palace of Culture in Sofia. Be in solidary with the Bulgarian rare diseases patients and their families. Come and support them!
The Norwegian Association of Aniridia is organising the First European Conference on aniridia. It will take place in Oslo (Norway) on 8-10 June 2012. Aniridia is a congenital rare disease, causing low vision and many associated eye conditions and sporadic disorders in other organs of the body. Promotion of research on this pathology is one of the key goals of this conference, as well as increasing and exchanging scientific knowledge on aniridia, fostering the development of patient registries, European guidelines of good practice and designation of expert hospital or clinic units. During the conference an Eye Clinic will be held where patients can get a second opinion on their condition from experts. In order to encourage the attendance of health professionals Aniridia Norway will subsidize and facilitate the participation of health professionals, especially young doctors. For further information, please, visit the conference official website.
The National Centre for Rare Diseases within the Italian National Health Institute is organizing next week a workshop on the clinical practice guidelines for rare diseases. The event will take place on 23-24 Febryary 2012 in Rome. The very first event on this issue is aiming at sharing experiences and knowledge and discussing critical methodological problems, linked to the specificity of rare diseases. The workshop is free of charge and open to all interested stakeholders. For further information and to register, please visit organizers’ website.
The new edtion of “Rare Diseases & Orphan Drugs” is just in front of you. This issue covers Rare Disease Day 2012. You can read our discussion with rare diseases patients on topics like soridarity and how to make the society more aware of rare diseases problems. We also present you the scheduled Rare Disease Day 2012 events in Bulgaria and how to join them. Further, you will find updated information for BURQOL-RD study, as well as some recent European developments on rare diseases registries. Rare Diseases Library features the rare disorder blepharospasm. If you enjoy “Rare Diseases & Orphan Drugs”, do not forget to subscribe through the form in the right.