Prevention of Disability Through Early Detection of Hereditary Diseases

Autosomal recessive hereditary diseases are relatively common in the Saudi population and underlie considerable disability in respect of physical and cognitive function. The consanguinity rate is a contributing factor. It is in excess of 50% and is a practice that remains strongly embedded within Saudi culture. Early detection and treatment of many recessive diseases can reduce mortality and minimize morbidity. This is the basis of successful neonatal screening for inborn errors of metabolism where treatment or modification of lifestyle can modulate disease. Ultimately, understanding the genetics of these diseases will provide opportunities for prevention. In Saudi society, premarital screening to identify carrier status and the provision of appropriate counseling has tremendous potential to prevent inherited disease. This seminar will consider the contribution to disability conferred by genetic diseases, the state of our knowledge in relation to the genetic basis of these diseases and currently available options to minimize the burden they place on individuals, the family and society.