Practical guides for parents of children with Prader-Willi syndrome are published on the Bulgarian PWS patient association’s webpage. To read them, please, click here. Please, note that they are only available in Bulgarian. The materials are provided by Mr. Stanimir Tsonev (president of the Bulgarian PWS patient association).
A new section – Registries and Statistics has been added to our site. You can find there actual epidemiological data about the rare diseases in Bulgaria and EU and lists of orphan drugs with market authorization.
On 20 November 2009, the International day of cystic fibrosis patients will be marked. The event is organized by the Association “Cystic fibrosis” and the National alliance of people with rare diseases. Relatives of patients with cystic fibrosis will gather in 8 o’clock before the Parliament and will give to the deputies 65 red roses – the symbol of cystic fibrosis patients. In this way they will express their protest and hope that eventually their fundamental rights will be respected and their main problems will be solved.
From 5 to 9 November 2009 a workshop “The New Kids’ Skills” will take place in Veliko Tarnovo, Bulgaria. The event is part of a project and its object is to introduce new effective practices for working with children and their parents. Two methods – “Kids’ Skills” and “Kids’ Skills for Parents” will be presented by their main developer – Mr. Ben Furman (Finland). For more information click here. To read the workshop’s programme – click here.
Seven updated scientific articles about the Prader-Willi syndrome have been published on the PWS association webpage. To read them, please, click here. Please, note that they are only available in English.
A new disease profile is added to our database – аmelogenesis imperfecta (AI). Amelogenesis imperfecta is a heterogeneous group of genetic disorders characterized by defects in tooth enamel formation in the absence of any generalized or systemic diseases. Amelogenesis imperfecta (AI) is currently classified into 14 distinct subtypes based on various phenotypic criteria. AL may affect deciduous, permanent or both dentitions. The prevalence of Amelogenesis imperfecta in the general population is reported at between 1:700 to 1:14 000. The profile was written by our consultant in dental medicine – Dr. Vesela Stefanova, DD.
A new disease profile is added to our database – spinal muscular atrophy (SMA). Spinal muscular atrophy genetic disorder with autosome-recessive inheriting. This disease is characterized by progressive muscle weakness resulting from the degeneration and loss of the motor neurons in the spinal cord. The frequency of SMA is 1/10 000 births for type I and 1/24 000 births for type II and III. The profile was written by our consultant Dr. Ralitza Jordanova.
А pilot epidemiological study of morbidity and incidence of chronic myeloid leukemia (CML) in Bulgaria has been completed. Information for 205 patients with this disease in Bulgaria has been collected. The final data will be published soon on our site and the results will help to launch a national registry for this disease. The pilot study was organized and conducted in close collaboration between ICRDOD, Scientific Society of Clinical and Transfusion Hematology and Medical Center “Raredis”.
The “kick off meeting” of ENERCA 3 Project will be held in the Hospital Clinic i Provincial of Barcelona on 22 September 2009. ENERCA 3 is a Public Health Project (2009-2012) co-funded by the Executive Agency for Health and Consumers (EAHC) of the European Commission for the creation of an European Reference Network of Expert Centers in Rare Anaemias.