Retinitis pigmentosa and Leber’s congenital amaurosis are rare inherited retinal distrophies that lead to irreversible blindness. The remarkable genetic heterogeneity of these diseases is due not only to the large number of genes involved, but also to the fact that mutations in a particular gene can cause different phenotypic variants, varying in severity, disease progression and inheritance. Logically, there is no unified classification that combines all clinical and genetic forms of the retinal pigment dystrophies. In this context, epidemiological research in clinical practice encompasses the studied contingents by different clinical-genetic and age criteria. This makes it extremely difficult to study and evaluate the epidemiology of the various forms of inherited retinal dystrophy. Despite the existence of clinical experience and a thorough knowledge of these diseases in Bulgaria, there is no published epidemiological data for the local population. This publication aims to analyze epidemiological data on retinitis pigmentosa and Leber congenital amaurosis and to provide an epidemiological assessment of the prevalence of these diseases in Bulgaria. For more information click here.
The assessment of innovation and the value of new medicinal therapies, has been repeatedly commented in “Rare Diseases and Orphan Drugs” journal. This is a key point in health technology assessment, which is often used by industry to justify the high cost of a particular drug. Innovation itself is a broad concept. However, when it comes to the value and assessment of health technologies, an important dimension of the innovation of a therapy is its added benefits. Not benefits, but added benefits. This is the link between pricing and cost of treatment with the health technology in question. For more information click here.
The media campaign “Like All of Us”
aims to inform the public about rare diseases by answering the most frequently asked questions and by telling personal stories of the people affected by them.
What are rare diseases? Those are diseases that affect less than 1 in 2 000 people. It is estimated that about 6% of the Bulgarian population suffer from rare diseases. With the advancement of medicine and innovative technologies, the opportunities for early diagnosis and treatment of people affected by rare diseases are significantly increased, which helps them living a fulfilling life, create families and have successful personal and professional realization in the society.
In Bulgaria there are only 22 people with Gaucher disease – a hereditary disease in which the body cannot break down the lipid glucocerebroside. In patients, there is an accumulation of the lipid in the liver, spleen, bone marrow and nervous system, which interferes with their normal functioning. The research work of many scientists around the world has led to the creation of enzyme replacement therapy, as a result of which people with Gaucher disease can have now an independent and fulfilling life. Take a look at the story of one patient with Gaucher disease in Bulgaria, Christian Dimitrov and find out more about this rare disease.
Thalassemia is a hereditary disease that affects hemoglobin synthesis. Hemoglobin is a part of the red blood cells and its main function is to carry oxygen to the body. A person with this disease produces “defective” hemoglobin, which makes red blood cells (erythrocytes) unstable and they are destroyed faster than usual. Women with the heavier forms of thalassemia have not been able to have children until recently due to the damage of the disease to the body. Now, thanks to the development of medicine, women with this disease can become pregnant and have healthy children. Learn about the story of Maria Ermakova from Stara Zagora, who was diagnosed with beta-thalassemia major, but that did not stop her from dreaming and starting a family.
Haemophilia is a disease that is characterized with impaired blood clotting. Due to the lack of a blood clotting factor, it takes longer for the bleedings to stop, which makes even the slightest scratches or injuries dangerous. This rare disease mainly affects men with a frequency of 1 in every 5 000. Innovations in medical science have led to the creation of treatments that allow patients to live actively and even exercise. Find out more about haemophilia from the story of Dimitar Petrov and Boyan Boyanov, who is also one of the first diagnosed patients in Bulgaria.
The media campaign “Like All of Us” is organized by the Institute for Rare Diseases, the National Alliance of People with Rare Diseases and the Association of the Research-Based Pharmaceutical Manufacturers in Bulgaria (ARPharM). For more information: www.raredis.org
The new issue of our scientific journal Rare Diseases and Orphan Drugs is now online. The issue contains 6 publications on various topics. The editorial is “ New methods for health technology assessement in response to the challenges of innovative therapies” If you would like to receive the latest information on rare diseases and orphan drugs, how the diagnostics and treatment is performed Bulgaria, please follow the link.
This team of medical specialists provides the answers of the requests to ICRDOD voluntarily and unpaid.
• Dr. Dimitrina Konstantinova, MD, PhD
• Dr. Hristo Shipkov, MD, PhD (more information)
• Assoc. Prof. Iliyana Pacheva, MD, PhD
• Prof. Ivan Ivanov, MD, PhD (more information)
• Assoc. Prof. Ivelina Yordanova, MD, PhD (more information)
• Prof. Janet Grudeva-Popova, MD, PhD (more information)
• Dr. Katya Sapunarova, MD, PhD
• Assoc. Prof. Krasimira Chudomirova, MD, PhD (more information)
• Assoc. Prof. Margarita Stefanova, MD, PhD (more information)
• Prof. Mariana Murdjeva, MD, PhD (more information)
• Dr. Marieta Peycheva, MD (more information)
• Dr. Nikolay Botushanov, MD (more information)
• Dr. Pavel Balabanov, MD, PhD (more information)
• Dr. Petya Blagoeva, MD (more information)
• Dr. Radka Stoeva, MD
• Prof. Radka Tincheva, MD, PhD (more information)
• Dr. Radostina Simeonova, MD, PhD (more information)
• Assoc. Prof. Ruska Hristova, MD, PhD
• Assoc. Prof. Vasil Yablanski, MD (more information)
• Assoc. Prof. Vesela Stefanova, DD
• Assoc. Prof. Veselina Goranova-Marinova, MD, PhD (more information)
• Dr. Vyara Shumnalieva-Ivanova, MD (more information)
•Dr. Lilyana Grozdanova, MD
• Assoc. Prof. Maria Simeonova
• Dr. Ruska Shumnalieva
• Prof. Atanas Batalov
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Last modification: 12:00 26.06.2018
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IMPORTANT! IMPORTANT! IMPORTANT!
The information in this site is provided completely free of charge for educational purposes and should not be used for self diagnosis and treatment. In the case of a health problem, please contact your doctor!
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Personal data are all kinds of information concerning an individual, which reveals his/her physical, psychological, mental, family, economic, cultural or public identity.
The Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) is obliged and engaged with the implementation of all necessary technical and organizational means, in order to protect your personal data from unauthorized access and use.
You have the right to send a written petition to ICRDOD, by which you can:
• ask for a confirmation for the existing personal data, concerning you
• update or change your data
• clarify the conformity with the law of the storage and processing of your personal data
• forbid ICRDOD to share entirely or partially your data for commercial information, advertisement or market surveys
• ask to be informed, before your data is revealed for the first time
Sharing of your personal data to third-party is permitted only if:
• the respective individual has given his consent in advance
• data sources are public registers or documents, containing public information
• this data will protect the health and life of the individual, as well as in cases when his/her condition is not permitting to provide with informed consent or there are juridical obstacles for this
• this data are officially asked by the prosecution or police authorities in order to protect the concurrency and users after the law
• this data are necessary for scientific, research or statistical purposes, but guaranteeing anonymity for the individual
For any question or comments, regarding your personal data protection, please contact us:
Information Centre for Rare Diseases and Orphan Drugs
15 A, Vasil Aprilov Blvd
4002 Plovdiv, Bulgaria
e-mail: info@raredis.org
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Last modification: 13:49 16.01.2011
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BULGARIAN SOCIETY OF HUMAN GENETICS (BSHG)
To Dr. Rumen Stefanov, PhD
Chairman of the Bulgarian Association for Promotion of Education and Science
Dear Dr. Stefanov,
The governing body of the Bulgarian Society of Human Genetics greets and supports your initiative for establishment of the Information Centre for Rare Diseases and Orphan Drugs in Bulgaria (ICRDOD). This centre should be especially useful for the genetists in our country, having in mind that a big part of hereditary and congenital diseases are rare and not enough studied. This will allow patients and doctors to have more opportunities for adequate information in one hand, and will let their duly forwarding for diagnostics, genetic counseling, therapy and rehabilitation. A real idea of the frequency and incidence of the diseases in the country will be also acquired.
We are ready to collaborate with the centre in this direction, as well as in organizing of jointly scientific events, scientific research and improvement of the health education by the use of all means.
Apart from my personal contribution as an expert, you could rely on the partnership of the following specialist from our society:
• Prof. Draga Toncheva, MD, PhD – Head of the department of medical genetics, University hospital “Maichin dom”, Sofia
• Prof. Ivo Kremensky, MD, PhD – Head of the department of molecular pathology, University hospital “Maichin dom”, Sofia
• Prof. Maria Simeonova, MD, PhD – Head of the sector of human genetics, Medical University of Pleven
• Prof. Margarita Stefanov, MD, PhD – Head of the laboratory of human genetics, Medical University of Plovdiv
• Prof. Ljudmila Angelova, MD, PhD – Head of the laboratory of human genetics, Medical University of Varna
On behalf of the medical genetists in Bulgaria, we wish you a tail-wind and beneficial activities together.
Chairman of the Bulgarian Society of Human Genetics
/signed/
Prof. St. Lalchev, MD, PhD
17.02.2005
Sofia
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LINKS:
Download the letter-support from the Bulgarian Society of Human Genetics – click
———————————————————————————– Personal data are all kinds of information concerning an individual, which reveals his/her physical, psychological, mental, family, economic, cultural or public identity. The Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) is obliged and engaged with the implementation of all necessary technical and organizational means, in order to protect your personal data from unauthorized access and use. You have the right to send a written petition to ICRDOD, by which you can: Sharing of your personal data to third-party is permitted only if: For any question or comments, regarding your personal data protection, please contact us: ————————————————————————— ———————————————————————————– Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) is a free educational and information service in Bulgarian and English languages, providing personalized replies to requests from patients, families and medical professionals. Any medical or health information, provided and hosted on this site is given by medically trained and qualified professionals. The information provided on this site is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her doctor. Confidentiality of data relating to individual patients and visitors to ICRDOD, including their identity, is respected by this website. We undertake to honour or exceed the legal requirements of medical/health information privacy that apply in Bulgaria. ICRDOD is a project and activity of the Bulgarian Association for Promotion of Education and Science (BAPES) – a non-government non-profit organization, registered under the Bulgarian law on legal persons with non-profit purposes in 2003. For the realization of this website, BAPES utilizes its own funding, received from private donors. The director and all consultants of ICRDOD are contributing on volunteer basis. ICRDOD AIMS ICRDOD TEAM Dr. Ralitza Jordanova, MD Mr. George Iskrov Ms. Lilia Popova Assoc. Prof. Dr. Margarita Stefanova, MD, PhD (short CV) Assoc. Prof. Dr. Mariana Murdjeva, MD, PhD Dr. Ivan Ivanov, MD, PhD (short CV) Dr. Christo Shipkov, MD, PhD (short CV) Dr. Dimitrina Konstantinova, MD Dr. Pavel Balabanov, MD, PhD (short CV) Dr. Nikolay Botushanov, MD (short CV) Dr. Iliana Pacheva, MD Dr. Petya Blagoeva, MD Mr. Svetoslav Nikolov Dr. Vesela Stefanova, DD Mr. George Georgiev Dr. George Stefanov, MD, PhD, MBA PRIVACY STATEMENT ADVERTISING POLICY CONTACT INFORMATION Information Centre for Rare Diseases and Orphan Drugs DOWNLOADS Rare diseases as a medical and public health problem (reprint from the journal ) – click (Bulgarian, PDF format, size 2.9Mb) Letter-support from the Bulgarian Ministry of Health – click (English, PDF format, size 583Kb) Letter-support from (Bulgarian, PDF format, size 302Kb) Letter-support from (Bulgarian, PDF format, size 244Kb) Letter-support from the BULGARIAN SOCIETY OF CARDIOLOGY – click Letter-support from the Bulgarian Society of Human Genetics – click
Projects on Bulgarian level Projects on EU level Social, Educational and Scientific Initiatives 2009 2008 2007 2006 2005 Annual Reports Newsletters —————————————————————————
IMPORTANT! IMPORTANT! IMPORTANT!
The information in this site is provided completely free of charge for educational purposes and should not be used for self diagnosis and treatment. In the case of a health problem, please contact your doctor!
———————————————————————————–
* Ask for a confirmation for the existing personal data, concerning you;
* Update or change your data;
* Clarify the conformity with the law of the storage and processing of your personal data;
* Forbid ICRDOD to share entirely or partially your data for commercial information, advertisement or market surveys;
*Ask to be informed, before your data is revealed for the first time.
* The respective individual has given his consent in advance;
* Data sources are public registers or documents, containing public information;
* This data will protect the health and life of the individual, as well as in cases when his/her condition is not permitting to provide with informed consent or there are juridical obstacles for this.
* This data are officially asked by the prosecution or police authorities in order to protect the concurrency and users after the law.
* This data are necessary for scientific, research or statistical purposes, but guaranteeing anonymity for the individual.
Information Centre for Rare Diseases and Orphan Drugs
4 Bratia Svestarovi str.
4017 Plovdiv, Bulgaria
e-mail: info@raredis.org
Last modification: 00:49 04.6.2006
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IMPORTANT! IMPORTANT! IMPORTANT!
The information in this site is provided completely free of charge for educational purposes and should not be used for self diagnosis and treatment. In the case of a health problem, please contact your doctor!
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➢ Facilitate the access of patients with rare diseases to information about the disease affected them;
➢ Providing medical professionals with quality information about rare diseases;
➢ Running a multilingual Internet site about rare diseases and orphan drugs (www.raredis.org) with news, educational topics for patients, doctors and associations, discussion forums, etc.;
➢ Encourage people with rare disease to establish patient associations, which is the way to protect their human rights and to participate in regulatory actions;
➢ Establish contacts between patients/patient groups, who need an information for specialised clinics, clinical trails, treatment, and medical professionals in Europe;
➢ Bridging between patients with rare diseases, researchers and industry;
➢ Lobbying and advocating for adopting of adequate rare disease and orphan drug legislation;
➢ Networking and integrating with the other similar national and international organizations;
➢ Active search for partners for collaboration and support at a national and international level;
Assoc. Prof. Dr. Rumen Stefanov, MD, PhD (short CV)
Director of ICRDOD
Orphanet national co-ordinator
Technical assistant and communication with patients/consultants
Orphanet Information Scientist
International programmes and projects
Technical assistant and communication with patients/consultants
Consultant in human genetics
Consultant in immunology
Consultant in pediatric neurology
Consultant in surgery
Consultant in human genetics
Consultant in neurology
Consultant in internal diseases and endocrinology
Consultant in pediatrics
Consultant in psychiatry
Web programmer and administrator
NK Software
Member of the Board of Directors of BAPES
Hosting administrator and programmer
Member of the Board of Directors of BAPES
Personal data are all kinds of information concerning an individual, which reveals his/her physical, psychological, mental, family, economic, cultural or public identity. The Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) is obliged and engaged with the implementation of all necessary technical and organizational means, in order to protect your personal data from unauthorized access and use.
You have the right to send a written petition to ICRDOD, by which you can:
* Ask for a confirmation for the existing personal data, concerning you;
* Update or change your data;
* Clarify the conformity with the law of the storage and processing of your personal data;
* Forbid ICRDOD to share entirely or partially your data for commercial information, advertisement or market surveys;
*Ask to be informed, before your data is revealed for the first time.
Sharing of your personal data to third-party is permitted only if:
* The respective individual has given his consent in advance;
* Data sources are public registers or documents, containing public information;
* This data will protect the health and life of the individual, as well as in cases when his/her condition is not permitting to provide with informed consent or there are juridical obstacles for this.
* This data are officially asked by the prosecution or police authorities in order to protect the concurrency and users after the law.
* This data are necessary for scientific, research or statistical purposes, but guaranteeing anonymity for the individual.
There is currently no advertising or sponsored content on the ICRDOD website. To provide quality health information, education and news in a timely manner to our users, we may permit health-related advertising on our site. However, we do not allow outside advertisers to affect the quality or accuracy of information on our site, and we maintain a stringent policy of editorial independence. ICRDOD does not endorse any products. We maintain complete editorial independence with respect to our content in every circumstance. We do not permit advertisers or other third-party sponsors to make changes to the website content. We do not accept advertising that is false, misleading, ineffective, dangerous, or for firearms, alcohol, tobacco, and pornographic products or websites. We do not provide or sell any information to a third party that would allow it to identify a person’s individual medical circumstances or conditions. ICRDOD does not accept “advertorials”. Advertorials are articles provided by sponsors with the sole purpose of promoting a product or service. However, news or articles on www.raredis.org may link out to off-site advertorials company websites, that www.raredis.org has no control over. Our site www.raredis.org occasionally shares anonymous aggregate statistical information regarding site usage and traffic with public. This information cannot be linked to individual users and is entirely anonymous.
Bulgarian Association for Promotion of Education and Science (BAPES)
4 Bratia Sveshtarovi str., 4017 Plovdiv, Bulgaria
e-mail: bapes@mail.bg
15a Vasil Aprilov blvd (University hospital campus), 4000 Plovdiv, Bulgaria
e-mail: info@raredis.org
HELP LINE: +359-32-575797
ICRDOD Activity Report for 2005 – click (English, PDF format, size 4.96Mb)
(English, PDF format, size 337 Kb)
· 2009, August 1 – Pilot Epidemiological Study of Chronic Myeloid Leukemia (more information)
· 2009, May 15 – Opening of Medical Centre “RareDis” (more information)
· 2008, August 1 – National registry of patients with thalassemia major in Bulgaria (more information)
· 2010, April 20 – BURQOL – RD Project (more information)
· 2010, April 1 – RD PORTAL 2 Project (more information)
· 2009, June 13-14 – Fourth Eastern European Conference for Rare Diseases (more information)
· 2007, December 11 – EUROPLAN Project (more information)
· 2007, April 1 – RD PORTAL 1 (ORPHANET) (more information)
2010
· October 1 – Rare Diseases Epidemiology (more information)
· September 17 – March of People with Rare Diseases (more information)
· July 2-4 – Fifth Eastern European Conference for Rare Diseases (more information)
· May 28-30 – EUROPLAN National Conference for Rare Diseases and Orphan Drugs (more information)
· April 24 – Workshop on Establishing Registry of Crohn Disease Patients in Bulgaria (more information)
· April 9 – Presentation of the Pilot Epidemiological Study of Chronic Myeloid Leukemia Results (more information)
· March 27-28 – Seminar “Rare Diseases Patients and Medical Students – ideas for partnerships and common projects” (more information)
· March 26 – Meeting on the National Thalassaemia Registry Project (more information)
· February 28 – Rare Diseases Day in Bulgaria (more information)
· September 15 – Protest March of People with Rare Diseases (more information)
· July 10 – Workshop “How to Learn to Live with the Disease” (more information)
· June 1 – Charity Bazaar in Favour of People with Rare Diseases (more information)
· February 28 – Rare Diseases Day in Bulgaria (more information)
· January 31 – Workshop with the Doctors-Consultants at the ICRDOD (more information)
· January 30 – Meeting on the National Thalassaemia Registry Project (more information)
· December 23 – Christmas Charity Initiative in Favour of People with Rare Diseases (more information)
· November 21-22 – First National Conference for Rare Diseases “ONCOLOGY AND HEMATOLOGY” (more information)
· June 20-21 – Hereditary Angioedema Workshop (more information)
· April 19 – Workshop with the Association of Medicine Students in Bulgaria (more information)
· March 1-2 – Third Eastern European Conference on Rare Diseases (more information)
· December 22 – Charity Christmas Concert (more information)
· November 30 – Workshop on Cystic Fibrosis (more information)
· October 6 – Workshop with the Doctors-Consultants at the ICRDOD (more information)
· September 8-9 – Second Eastern European Conference on Rare Diseases (more information)
· February 6 – Meeting in Medical Genetics (more information)
· December 19 – Annual Meeting of ICRDOD (more information)
· May 27 – First Eastern European Conference on Rare Diseases (more information)
· March 11-12 – Workshop on Hereditary Angioedema (more information)
· 2010 (open as a pdf file)
· 2009 (open as a pdf file)
· 2008 (open as a pdf file)
· 2007 (open as a pdf file)
· 2006 (open as a pdf file)
· 2005 (open as a pdf file)
· Issue 1, Year I (open as a pdf file)
· Issue 2, Year II (open as a pdf file)
Last modification: 10:17 15.02.2011
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