Academic CRO/Industrial collaborations in drug discovery (Track)




Assessing inborn errors of metabolism in Saudi Arabia and improved methods of screening and diagnosis

Yazeed A. Al-Sheikh
Assistant Professor of Medical Genetics Chairman of Clinical Lab Sciences College of Applied Medical Sciences King Saud University Riyadh, Saudi Arabia

Abstract:

The rate of incidence of Inborn errors of metabolism (IEM) in KSA is one of the highest in the world due to a very high rate of consanguinity which exceeds 50 %. The aim of this project is to develop a comprehensive analytical repertoire for the diagnosis of a selected number of errors know to be common in the Saudi population. Timely and comprehensive work up of individuals suspected with IEMs will improve the clinical management of patients and there families the project aims to assess the usefulness of various derivatisation   reagent for improving the poor mass spectrometric characteristics of the concerned IEM markers. This will allow the provision of quantitative data on the levels of different markers in biological materials as a complimentary part of the diagnosis and follow up. In addition the study will involve further elucidation of the unique genetic predisposing factors behind the selected errors. Further more this will provide physicians to reach the correct diagnosis faster and will save on the coast.