Titre : | Neuromuscular disorders in Roma (Gypsies)--collaborative studies, epidemiology, community-based carrier testing program and social activities : The Meryon Lecture at the 18th Annual Meeting of the Meryon Society Wolfson College, Oxford, UK, 12th September 2014 |
Revue : | Neuromuscular disorders : NMD, 26, 1 |
Auteurs : | Tournev I, Auteur |
Type de document : | Article |
Année de publication : | 01/2016 |
Pages : | p 94 |
Langues: | Anglais |
Mots-clés : | accès aux soins ; Bulgarie ; CMT4D ; CMT4G ; collaboration scientifique ; consanguinité ; conseil génétique ; dépistage ; effet fondateur ; épidémiologie ; gène CHRNE ; gène CTDP1 ; gène GNE ; gène NDRG1 ; gène SGCG ; hétérozygote ; histoire ; information médicale ; LGMDR5 liée au gamma-sarcoglycane ; maladie multisystémique ; maladie neuromusculaire ; médiation psychologique ; mutation génétique ; myopathie liée à GNE ; répartition géographique ; syndrome myasthénique congénital ; Tsiganes |
Résumé : |
EXCERPT
...Similar to other genetically isolated founder populations, such as the Finns and the Ashkenazi Jews, the Roma harbor a number of unique or rare autosomal recessive disorders caused by “private” founder mutations. Oppressive policies of persecution, exclusion, containment and forced assimilation practiced toward the Roma in most, if not all, European countries, together with Roma’s adherence to an ancient social tradition, have acted together to result in endogamy and isolation, making the Roma one of Europe’s largest genetic isolates [11]. As a result of the traditionally low socio-economic status and limited access of the Roma to health care, their unique genetic heritage has long escaped the attention of European medicine. In 1996, after publishing of two papers [19,20], on Limb girdle muscular dystrophy type C due to a private C283Y Gypsy mutation and on a novel disorder – Hereditary motor and sensory neuropathy type Lom, Prof Jean-Claude Kaplan initiated with the support of AFM research activities in the different countries and stimulated European collaboration in studies. International collaboration has made a substantial contribution to the study of these diseases. In 2001 and 2004, International Workshops of the European Neuromuscular Centre entitled “Neuromuscular Disorders in Roma” were held. During the 125th ENMC Workshop, specialists from Europe, Australia and Japan discussed the diagnostics and prevention of these disorders and future collaboration in improving health care [21]... |
Lien associé : | https://www.ncbi.nlm.nih.gov/pubmed/1016 |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2015.10.002 / Pubmed : 26564278 |