Rare genetic diseases in the Roma population: their diagnosis and treatment

eea grants-FNM-MZČR logoOn April 16, 2024, the final conference of the project financed by the financial mechanism of the EEA and Norway took place, entitled "Increasing the availability of targeted prevention and early diagnosis of specific communicable and non-communicable diseases in selected socially excluded locations with Roma communities", reg. no. ZD-ZDOVA2-001. The final conference was held in the premises of the Kaiserštejn Palace.

At this conference, the professional public from the ranks of general practitioners and other healthcare workers was informed about the goals, activities of the project and their fulfillment.

As part of this project, which is aimed at raising awareness of specific genetic diseases occurring in the Roma population, a publication entitled
Rare genetic diseases in the Roma population: their diagnosis and treatment.

The aim of the publication is to help practicing pediatricians orientate themselves in the issues, diagnosis and management of rare diseases in the Roma population. The publication is also available to the professional public at https://nf.ublg.cz. "Especially, we want to inform colleagues from the field about the network of specialist workplaces that can diagnose rare diseases in a targeted manner and ensure their treatment. In the publication, rare diseases are sorted by field, their symptoms, diagnosis and treatment options are clearly listed. The publication also provides contacts to facilities where doctors can seek help, broken down by location. It is a manual that should especially help pediatric practitioners manage the complex issue of rare diseases," adds Professor Milan Macek, who is signed as the author under the publication.

Rare genetic diseases in the Roma population: their diagnosis and treatment

There are about twenty million people in the world who suffer from one of the rare diseases (RA). If we were to take a look at individual case reports worldwide, we would be talking about about 1200 diseases that are newly diagnosed every year. The exact number of rare diseases is unknown, but it is estimated that there are 5000-7000. This number is not fixed, mainly because, thanks to new technologies, procedures and scientific knowledge, a number of studies are underway aimed at refining the diagnosis of already known, as well as completely new VOs.

"The common characteristic of rare diseases is that they are rare in the general population, but at the same time they encompass the whole of medicine, affecting all specialties and expertise. Another specificity is that there is a strong genetic component to them; genetics play a dominant role in rare diseases and more than 80% of them are of this type. These include various syndromic diseases, neurodevelopmental disorders, endocrinological diseases or congenital disorders of metabolism," explains Professor MUDr. Milan Macek, DrSc., MHA, head of the Institute of Biology and Medical Genetics of the 2nd Faculty of Medicine of the UK and FN Motol.

Rare diseases in practice

Doctors from a wide range of fields encounter patients with rare diseases in their practice: geneticists, ophthalmologists, cardiologists, neurologists, but also general practitioners for adults and general paediatricians. "In the practice of pediatricians, it is very difficult to think that some of the children in their care may suffer from a rare disease, because the symptoms of these diseases are not specific. The situation is more complicated when it comes to a child from the Roma community," adds Professor Macek.
There are specific VOs in the Roma population, which are mainly due to the population genetic history and the relative social and geographical isolation of the European Roma populations. These diseases very often remain undiagnosed or misdiagnosed, and the health system often does not know about children who suffer from them. Typical examples are forms of rare eye diseases or neurosensory diseases.

More information:
Petra Hátlová
petra.hatlova@ Gmail.com

Ivana Funková
Ivana.funkova@fnmotol.cz

Press Release: 20240416_TZ_rare_genetic_disease

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