Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9

A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base pairs) as well as its 59and 39flanking intronic segments (232 bp and 220 bp, respectively) and integrated with the information available for the same genetic region from individuals of different geographical origins. Nine mutations were scored in exon 3 and six in its flanking regions; four of them are new South American tribe-specific singletons. Exon3 nucleotide diversity is several orders of magnitude higher than its intronic regions. Additionally, a set of variants in the PAX9 and 101 other genes related with dentition can define at least some dental morphological differences between Sub-Saharan Africans and non-Africans, probably associated with adaptations after the modern human exodus from Africa. Exon 3 of PAX9 could be a good molecular example of how evolvability works

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-income countries. At present, there is no framework to evaluate the improvement of care, treatment, and prevention of thalassaemia and other haemoglobinopathies globally, despite thalassaemia being one of the most common monogenic diseases worldwide. Here, we propose a universally applicable system for evaluating and grouping countries based on qualitative indicators according to the quality of care, treatment, and prevention of haemoglobinopathies. We also apply this system to GGN countries as proof of principle. To this end, qualitative indicators were extracted from the IthaMaps database of the ITHANET portal, which allowed four groups of countries (A, B, C, and D) to be defined based on major qualitative indicators, supported by minor qualitative indicators for countries with limited resource settings and by the overall haemoglobinopathy carrier frequency for the target countries of immigration. The proposed rubrics and accumulative scores will help analyse the performance and improvement of care, treatment, and prevention of haemoglobinopathies in the GGN and beyond. Our proposed criteria complement future data collection from GGN countries to help monitor the quality of services for haemoglobinopathies, provide ongoing estimates for services and epidemiology in GGN countries, and note the contribution of the GGN to a local and global reduction of disease burden

Approche pharmacogénomique du traitement de la drépanocytose (analyse globale de l'effet de l'hydroxyurée sur le transcriptome de cellules endothéliales humaines)

PARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF

Effet du traitement des cellules endothéliales par l'hydroxyurée sur l'hémodynamique et l'adhérence des globules rouges drépanocytaires

PARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF

Effet de l hydroxyurée sur les protéines d adhésion des globules rouges et des céllules endothéliales chez les enfants drépanocytaires

PARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF

Identification de nouveaux gènes impliqués dans des maladies ophtalmologiques rares en utilisant la CGH-array

PARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF