Research Groups

[248] Molecular Pathogenesis of Trisomy 21 and Variation and diseases of the Human Genome

A. MOLECULAR PATHOGENESIS OF TRISOMY 21
1- Chromosome 21 structure: Genome, Transcriptome, Non-genic conserved regions, Repeats
2- Chromosome 21 function: Genes, Regulatory regions, Other conserved regions
3- Down syndrome: Etiology of non-disjunction, Diagnostics, Genes involved in phenotypes, Mouse and other animal models
4- Monogenic disorders on chromosome 21

B. HUMAN GENOME : VARIATION AND DISEASES
5- Common complex phenotypes on chromosome 21
6- Functional DNA variability
7- Haplotype mapping of the human genome
8- Susceptibility alleles for common complex phenotypes

Group Publications