The new edition of “Rare Diseases & Orphan Drugs” is already published on our website. The cover story presents the health technology assessment (HTA). Dr. Edmund Jessop and Ms. Jacqueline Bowman would discuss the features of this concept, as well as its potential benefits for patients and physicians. The issue summarises the most important achievements of 2012 – both for Bulgaria and Europe. “Rare Diseases Library” reviews a rare disorder, named Friedreich Ataxia. You will also find many other interesting articles in our newsletter. Hapy holidays!
We would like to wish you a Merry Christmas and a Happy New Year. Let the new 2013 bring you lots of good health, joy and success! We hope that we will continue to actively work together for our common cause – improved healthcare for people with rare diseases and raised awareness of the society on this important issue.
“St. John” and “St. Ivan Rilski” Lions Clubs are organising a charity ball on December 13 at “Sheraton” Hotel in Sofia to help children suffering from epidermolysis bullosa. The “butterfly” kids need special non-adhesive bandages, that are not accessible. Epidermolysis bullosa bandages are not reimbursed, despite the disorder being chronic and lifelong. Families usually can not afford such expense and therefore children suffer more.
Lions Club International is one of the largest charities in the world, founded nearly 100 years ago. Their motto is “We Serve”. If you wish to attend and support the initiative, please contact Lions Club by e-mail lk.st.joan @ gmail.com.
For a second consecutive year, the National Alliance of People with Rare Diseases is releasing a charity calendar. While last year’s initiative presented young patients with rare diseases, this year six beautiful Bulgarian women stand up to show that life can be good despite the rare diseases. Proceeds from the calendar will be used to purchase oxygen masks for patients with cystic fibrosis. To find out more, please contact the National Alliance of People with Rare Diseases (e-mail nahrb.varna@abv.bg, phone +359 889 324 216, Ms. Vania Dobreva).
Тhe Second Bulgarian-Japanese Symposium “Genomics in Medicine” will take place in Sofia on December 8, 2012. The event is jointly organized by the Bulgarian Academy of Sciences, Union of Scientists in Bulgaria, Bulgarian National Academy of Medicine, National Human Genome Centre for Common Diseases at the Medical University of Sofia, Tokuda Hospital and Bulgarian Society of Human Genetics. Prof. Koh Shinoda (Yamaguchi University Graduate School of Medicine, Japan) and Prof. Draga Toncheva (National Human Genome Centre, MU-Sofia, Bulgaria) are co-presidents of the organising committee.
The official representative for Bulgaria of one of the biggest genetic laboratory in the world for predictive genetic testing of hereditary carcinomas Myriad Genetics, Euro Access Consulting is organising a workshop on the advanced opportunities of modern immunohistochemical and predictive genetic testing for breast and ovarian cancer. Leading experts will present the latest features for identification and treatment of hereditary breast and ovarian cancers, as well as the immunohistochemical best practices in this area. The event will take place in Sofia on December 7, 2012 at “Berlin Park Vitosha” Hotel.
Assocition Cystic Fibrosis together with the National Alliance of People with Rare Diseases are organising a charity concert. The event will take place on Decemeber 7 at 18 p.m. in the Sredets Hall in Sofia (2 A, Krakra Street). Various children music and dance groups will come support cystic fibrosis patients. For more information, please visit Association Cystic Fibrosis’ website.
DG Health & Consumers is launching a public consultation targeted to stakeholders on the European Reference Networks (ERN). The consultation gives the opportunities to provide views on the domains and elements to be addressed in the implementation of ERN under the framework of article 12 of the Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare. It is specifically seeking input in connection with the criteria to be considered in the process of identification and designation of healthcare providers as Centers of Excellence. Patient organizations, healthcare providers and centres of excellence, academic and public health and healthcare specialised institutions, public authorities are welcomed to give their views. The online questionnaire will be open until 24 January 2013.
The National Registry of Crohn Disease Patients has been updated in 2012. By November 2012 it already compiles epidemiological data for 299 Crohn disease patients. The new results have been summarised into a report, consisting of two parts – socio-demographic profile and Montréal classification of the disorder. The full text in Bulgarian is available on the National Crohn disease registry’s page on our website.
SYNONIMS: Pes equinovarus congenitus
ICD10 code: E85.0
ORPHANET number: ORPHA342
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.