Genetic studies of the Roma (Gypsies): A review

Luba Kalaydjieva, David Gresham, Francesc Calafell

Research output: Contribution to journalArticle

Abstract

Background: Data 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. Results: Recent 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. Conclusion: Although 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.

Original languageEnglish (US)
Article number5
JournalBMC Medical Genetics
Volume2
DOIs
StatePublished - Apr 2 2001

Fingerprint

Roma
Genetic Research
Medical Genetics
Demography
Cultural Anthropology
Population
Mutation
Social Sciences
Population Genetics
Biomedical Research
Counseling
Epidemiology
Public Health
Newborn Infant
Education
Health
Therapeutics
Research
Genes

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)

Cite this

Genetic studies of the Roma (Gypsies) : A review. / Kalaydjieva, Luba; Gresham, David; Calafell, Francesc.

In: BMC Medical Genetics, Vol. 2, 5, 02.04.2001.

Research output: Contribution to journalArticle

Kalaydjieva, Luba ; Gresham, David ; Calafell, Francesc. / Genetic studies of the Roma (Gypsies) : A review. In: BMC Medical Genetics. 2001 ; Vol. 2.
@article{bc048805955140ddb4b28ec2277d766d,
title = "Genetic studies of the Roma (Gypsies): A review",
abstract = "Background: Data 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. Results: Recent 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. Conclusion: Although 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.",
author = "Luba Kalaydjieva and David Gresham and Francesc Calafell",
year = "2001",
month = "4",
day = "2",
doi = "10.1186/1471-2350-2-5",
language = "English (US)",
volume = "2",
journal = "BMC Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central",

}

TY - JOUR

T1 - Genetic studies of the Roma (Gypsies)

T2 - A review

AU - Kalaydjieva, Luba

AU - Gresham, David

AU - Calafell, Francesc

PY - 2001/4/2

Y1 - 2001/4/2

N2 - Background: Data 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. Results: Recent 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. Conclusion: Although 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.

AB - Background: Data 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. Results: Recent 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. Conclusion: Although 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.

UR - http://www.scopus.com/inward/record.url?scp=0242267844&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0242267844&partnerID=8YFLogxK

U2 - 10.1186/1471-2350-2-5

DO - 10.1186/1471-2350-2-5

M3 - Article

AN - SCOPUS:0242267844

VL - 2

JO - BMC Medical Genetics

JF - BMC Medical Genetics

SN - 1471-2350

M1 - 5

ER -