Abstract
BackgroundData provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies.ResultsRecent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups.ConclusionAlthough far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.
Highlights
The Roma (Gypsies) became one of the peoples of Europe around one thousand years ago, when they first arrived in the Balkans [1,2]
This review of genetic studies of the Roma was prompted by two recent developments: (i) Studies conducted over the last decade have resulted in the identification of a number of novel single gene disorders and disease-caushttp://www.biomedcentral.com/1471-2350/2/5
In the clinical and molecular genetics fields, we have given preference to publications which were not limited to single case descriptions, and dealt with disorders with public health impact
Summary
The Roma (Gypsies) became one of the peoples of Europe around one thousand years ago, when they first arrived in the Balkans [1,2]. While human rights and socio-economic issues related to the Roma are increasingly becoming the focus of political debate and media coverage throughout Europe, their poor health status [3,4,5,6] is rarely discussed and still awaits the attention of the medical profession. (ii) The economic and political changes in Eastern Europe and the wars in former Yugoslavia have led to the west-bound migration of large numbers of Roma [7,8], changing the http://www.biomedcentral.com/1471-2350/2/5 traditional demographic profile of Gypsy minorities across Europe. Data provided by the social sciences as well as genetic research suggest that the 810 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies
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