HGM 2011 - Dubai, UAE

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Chaker Adra

Title: GENOMIC, PROTEOMIC AND STEM CELL STRATEGIES FOR DIAGNOSING AND TREATING KIDNEY, CANCER, CARDIOVASCULAR, NEUROLOGICAL AND AUTOIMMUNE DISEASES IN THE GULF REGION AND WORLDWIDE

Accurate diagnosis of the primary cause of an individual‘s kidney disease can be essential for proper management. Certain kidney diseases have similar histopathological features despite being caused by defects in different genes. Two consanguineous Saudi Arabian families in which individuals presented with renal failure and mixed clinical and histological features, initially thought consistent with focal segmental glomerulosclerosis (FSGS) were compared. We applied whole-genome single-nucleotide polymorphism analysis followed by targeted isolation and sequencing of exons using genomic DNA samples from affected members, followed by additional focused genotyping and sequence analysis. We studied members of two apparently related families from Saudi Arabia with kidney disease. The two apparently unrelated families shared a region of homozygosity on chromosome 2q13. Exome sequence from the affected individuals lacked any sequence reads from the NPHP1 gene, located within this homozygous region. Additional PCR based genotyping confirmed that affected individuals had NPHP1 deletions, rather than defects in a known FSGS-associated gene. This analysis demonstrates the power of new high-throughput genotyping and sequencing technologies to aid in the rapid genetic diagnosis of
individuals with an inherited form of kidney disease. The aim was to identify genes and differentially expressed proteins that have potential as disease specific biomarkers for kidney disease. This technology will aid in the diagnosis for other genetic and autoimmune related diseases. Functional characterization of these disease associated genes, proteins and stem cells will elucidate our understanding of the pathogenesis of kidney diseases, cancers, neurological, cardiovascular and stem cell diseases in the Gulf Region and throughout the world.

Sheikh Hamdan Bin Rashid Al Maktoum
Award for Medical Science

Human Genome Organisation

Centre for Arab Genomic Studies