Dr. Asem AlKhateeb's Group
Dr. AlKhateeb's group works to identify the etiology of genetic disease in our population. We recruit highly inbred families with intellectual disability (ID) and utilize cutting edge genetic tools to map and characterize the genes and mutations causing autosomal recessive disease. Samples of recruited families are genotyped by high density single nucleotide polymorphism arrays to identify runs of homozygosity in the patients that were inherited from the ancestor. These regions are shared between affecteds and heterozygous in the parents and would limit the search area where causative genes are located. Next generation sequencing (NGS) by whole exome or whole genome sequencing will be implemented utilizing Illumina HiSeq or Ion proton NGS machines. The vast amount of data is analyzed through the Qiagen Ingenuity Variant Analysis online tool which provides an easy interface to filter out variants and thus identify genes and mutations responsible for disease in each family. Novel genes and mutations are identified, validated by Sanger sequencing, tested in silico and functionally analyzed. This research is executed in collaboration with the Shafallah center for children with special needs. Results will shed light on novel mechanisms of disease. It will also help understand the genetic heterogeneity in our part of the world. It will also help the families have closure through identify causes of their disease and thus provide them with better tools for prevention, management and probable treatment.
The QBRI Human Genetics Team