HGM 2011 - Dubai, UAE

Programme

Speakers

Call for Abstracts

Travel Award

Registration

Hanan Hamamy

Title: Consanguinity and novel technology - Cracking the code of autosomal recessive disorders

Rare and novel autosomal recessive disorders have been widely reported from communities with high consanguinity rates, including Arabs, since the main impact of consanguinity is an increase in the prevalence of such disorders. Analysis of data in the Catalogue for Transmission Genetics in Arabs (CTGA), a database on genetic disorders in Arab populations maintained by the Centre for Arab Genomic Studies (CAGS), indicates that among more than 1000 disorders in the CTGA Database, 68% follow a recessive mode of inheritance.
Scientifically, a considerable number of genes causing autosomal recessive conditions have been structurally and functionally determined at the molecular level through the joint collaboration of international and Arab scientists; these efforts should continue and expand given the high number of rare recessive disorders in this region..
Technological advances for rapid high throughput genome sequencing (HTS), and for the identification of copy number variants by comparative genomic hybridization (aCGH) offer an unprecedented opportunity to identify genotype-phenotype correlations focusing on autozygosity, the hallmark of consanguinity. discovery of the functional genomic elements with recessive pathogenic mutations in consanguineous families will lead to a better understanding of the genetic, molecular and biochemical processes underlying a considerable number of autosomal recessive diseases and paves the way towards new forms of diagnostics and future treatment.

Sheikh Hamdan Bin Rashid Al Maktoum
Award for Medical Science

Human Genome Organisation

Centre for Arab Genomic Studies