A community genomic study of inherited neurological disorders in Oman

Autosomal recessive disorders are common in communities where consanguineous marriages are preferred over other types of marriages. In most cases these are rare diseases with very low prevelance in an overall population. However, if studied in certain communities they could be more prevalent. The genes' mutations causing these disorders are unique to each population and sometimes very specific to a certain community. In Oman, the Ministry of Health and other higher education and research organizations have realized the burden of such diseases on individuals, families and communities and have been trying to understand, control and prevent such diseases. In addition to the efforts to provide genetic services through existing primary health care system. The project of studying autosomal recessive neurological disorders in Oman will use existing and innovative techniques in trying to find the causative genes of few genetic disorders that affect the Omani community in addition to establishing a base for disease gene identification pipeline formed in Oman. The project is based on the following: 1.The principal investigator's experience in the last three years in co-leading and then leading a strategic project from SQU funded by HM research funds for the study of genetic disorders in collaboration and support from Prof Andrew Crosby from St Georges' University of London. 2.Availability and accessibility of Affymetrix Gene Chip platform, ABI 3100 DNA sequencer and modern molecular Biology laboratory facilities in Sultan Qaboos University. 3.Availability and accessibility of an Illumina microarray for expression studies, two 3100 DNA sequencers, a staffed Biomics facility which offers a wide range of specialist equipment for molecular studies, a staffed imaging facility with two confocal microscopes and electron microscopy facilities, the Biological Research Facility for animal studies in St Georges' University of London, and collaborative access to Roche 454 sequencing platform for next generation sequencing. 4.Clinical expertise of three of highly motivated experienced medical doctors working in Oman in the field of genetic diseases and who are interested in elucidating the molecular basis of some of the autosomal recessive conditions they are dealing with. Work plan 1.Ascertainment of families with autosomal recessive disorders and detailed documentation of phenotypes by clinicians. Informed consent from the families who are willing to participate in the study will be obtained. 2.DNA isolation, microarray SNP chip analysis, linkage to loci and disease gene prioritization and sequencing of candidate genes will be done in Oman. 3.Mutation identification and dissemination of data to clinicians. Offer research based genetic testing following the rules and guidelines of Ministry of Health and Sultan Qaboos university 4.Parallel sequencing and development of next generation sequencing analysis techniques in St Georges' University of London under the supervision of Prof Crosby. The project is an ambitious attempt to set up a pipeline for disease gene discoveries motivated by the determination of the group members and supported by the existing expertise within the group.(see attached CV's for investigators)