Genetics
About
Centrally supported research programs and core services are hallmarks of the Department of Genetics. A primary objective of research undertaken in the department is to identify genes underlying Mendelian diseases. For these disorders, often there is no effective treatment and “prevention is the best cure”. Prevention is dependent on identifying the underlying cause(s) of each Mendelian disease. Many Mendelian diseases or mutations underlying them encountered in Saudi Arabia are novel and will only be identified through local research efforts. The Department of Genetics leverages its participation in the Saudi Human Genome Program to accelerate research in rare Mendelian disorders. Involvement in this program and establishment of the sequencing and informatics infrastructure has been a strong contributing factor towards the departments publication of high quality manuscripts related to hereditary disease and disease susceptibility. It is fair to say that KFSHRC is now a world leader in rare diseases research. Vision impairment, deafness, craniofacial abnormalities, movement disorders, immunodeficiency, inborn errors of metabolism, Mendelian cardiovascular disease, gastrointestinal disorders and cognitive disorders are among the disease groups under study. Small programs are also underway to address complex disorders such as type 2 diabetes, autism, Alzheimer disease, cardiovascular disease and atherosclerosis. A recent area of interest heralding the era of personalized medicine is pharmacogenetics. Through this initiative, the Department of Genetics has expanded its clinical collaborations to include the Organ Transplant Centre, the Department of Psychiatry, the King Faisal Heart Institute and the hospital Pharmacy.
Research Activities
- Hundreds of high quality publications related to hereditary disease and disease susceptibility.
- Departmental scientists are engaged in more than 20 externally funded research grants and the Saudi Human Genome Program totaling more than SAR 100 million in funding.
- Identification of 69 recessive genes not previously associated with neurogenetic disorders.
- Demonstration of the value of molecular karyotyping for neurocognitive phenotypes.
- Identification of a novel gene (COL25A1) associated with Congenital Cranial Dysinnervation Disorder.
- Identification of a novel gene (DEAF1) associated with white matter disease, intellectual disability and microcephaly.
- Deciphering the molecular genetic basis of movement disorders in more than 50 patients from KFSHRC.
- Identification of the molecular basis of hereditary deafness in more than 100 families from KSA.
- Identification of a novel gene associated with chronic inflammatory syndromes such Juvenile Rheumatoid Arthritis (JRA) and Crohn’s Disease.
- Description of concomitant mutations of RAS, RET/PTC or BRAF mutations in Papillary Thyroid Carcinoma.
- Analysis of over 300 cases of inherited Primary Immune Deficiency.
Sections
The Department of Genetics is also heavily engaged in service work undertaking the molecular genetic analysis, prenatal testing and newborn screening. Our core facilities continue to be the “engine room” for both research and service work. Core activities include DNA extraction, oligonucleotide services, genotyping, expression analysis, molecular karyotyping, Sanger sequencing, Next Generation Sequencing and Bioinformatics. Our training and education activities have included hosting of a large number of trainees ranging from gifted students, science and medical graduates to clinical fellows.
