A survey, organized by the working group Research and Science of the European Reference Network on rare endocrine conditions (Endo-ERN) is being conducted. The aim of this survey is to gain the views and experiences of people living with rare endocrine disorders about the research they think should be prioritized related to their disease within European countries. Patients, parents, and relatives can participate in this study by following this link.
The National Alliance of People with Rare Diseases is organizing a training seminar on “Self-Help for Improving the Quality of Life of People with Rare Diseases and Their Families”. The event will be held on March 28-29, 2020, at “Rusalka” Hotel, Plovdiv, Bulgaria. Some of the topics, which will be discussed are going to be focused on the biggest problems such as “Stress from diagnosis and its effect on the immune system”, “Psychophysical practices for strength, health and immunity” and many other interesting discussions. The event will include fascinating speakers such as Dr. Maria Ivanovska, Marin Minchev and many others. For more information click here.
There are approximately 7 000 rare diseases affecting 25-30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct up-to-date patient management. Exome sequencing (ES) is a comprehensive diagnostic approach, but only 25%-41% of the patients receive a molecular diagnosis. The remaining three-fifths to three-quarters of patients undergoing ES remain undiagnosed. The Stanford Center for Undiagnosed Diseases (CUD), a clinical site of the Undiagnosed Diseases Network, evaluates patients with undiagnosed and rare diseases using a combination of methods including ES. Frequently these patients have non-diagnostic ES results, but strategic follow-up techniques identify diagnoses in a subset. We present techniques used at the CUD that can be adopted by genetics providers in clinical follow-up of cases where ES is non-diagnostic. Solved case examples illustrate different types of non-diagnostic results and the additional techniques that led to a diagnosis. Frequent approaches include segregation analysis, data reanalysis, genome sequencing, additional variant identification, careful phenotype-disease correlation, confirmatory testing, and case matching. We also discuss prioritization of cases for additional analyses. For more information read the full article here.
Hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is a rare disease with unpredictable, self-limiting and localized swelling episodes involving the cutaneous and subcutaneous tissues. In the last decade, the spectrum of the possibilities to control the disease has considerably changed with the development of biologic therapies making necessary a careful evaluation of the differences among current and emerging treatments to properly optimize the management of patients. This review serves to summarize the literature regarding the use of biologics for the treatment of C1-INH-HAE. Medications already available on the market and new drugs in different phases of development are addressed. Тhe advent of biologic therapies dramatically improved the lives of patients with C1-INH-HAE although further improvement is still needed. Whether this is cost/effective will be answered in the next years when we will see if these major advances will benefit the majority of the patients. For more information click here.
Activities and goals:
This is a group for parents of children and women with Turner Syndrome. The aim is to provide place where can be exchanged experience and ideas and everybody can help each other. Тhe objective is to have more useful information for patients and more public awareness of this rare disease.
Dr. Petia Stratieva
str. San Stefano 17, 6th floor
Dr. Petia Stratieva – president
Tsvetana Dvorskа – member
Maria Konstantinova – member
• organisation of patients and family members living with degenerative retinal diseases
• patients empowerement
• access to diagnosis
• treatment (including access to clinical researches)
• clinical researches
• new therapies
A group of parents of children and women with Turner syndrome gathered together in a patient association to exchange experiences, ideas and mutual assistance in the fight against the disease. Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. To support patients suffering from the disease in Bulgaria, the organization translates the book “Turner Syndrome – Know Your Body!” which is the result of the intense interest of many researchers from Europe and the US to girls and women with Turner Syndrome. You can find the book here.
Phone: 0887 297 122
0898 756 838
110, Mir str., Varna, Bulgaria
Ms. Slaveya KOSTADINOVA – President and mother of a child with spina bifida and hydrocephalus
Ms. Victorya Nedyalkova – Member of Governing Body
Ms. Antoaneta Ivanova – Member of Governing Body and mother of a child with hydrocephalus
About the association
Spina Bifida and Hydrocephalus Bulgaria (SBHB) is an association formed by parents of children with spina bifida and hydrocephalus. SBHB is a natural, modern and adequate way to meet the growing needs of the patient community in terms of support and assistance, access to information, exchange of experience and ideas, protection of common interests before state institutions. Other priorities of SBHB include primary prevention of spina bifida and hydrocephaly, integration and improvement of quality of life of patients.
Since March 2012 SBHB is a member of the International Federation for Spina Bifida and Hydrocephalus.
Last modification: 11:22 28.06.2018
Mr. Martin KOJINKOV – President
Postal adres: Druzhba 2 Residential Area, bl. 212, entr. C, fl. 66
1582 Sofia, BULGARIA
Phone: (+359) 898 449 180
Internet site: http://www.babkuk.org/
Governing body: Mr. Martin KOJINKOV, President
Mr. Dimo Gatev – Member of Governing Body
Mr. Lyubomir Ivanov – Member of Governing Body
Ms. Zlatina Georgieva – Member of Governing Body
Mr. Iordan Grigorov – Member of Governing Body
Last modification: 10:36 18.06.2018