1. To establish the infrastructure of a comprehensive database to cover all the aspects related to the genetic and birth defect disorders.
2. To register patients from the Clinics of KFSH &RC with known or proven genetic and metabolic diseases.
3. To enter those patients registered into the data base in the BESC.
4. To analyze data as proposed in the initial proposal.
The Arabian Peninsula, particularly Saudi Arabia, holds a special place in the world as far as inherited diseases are concerned.  No reliable data are available for their prevalence.  However in some instances it may be 4-10 times higher than any other country in the West.  This project was established to register dysmorphic patients, chromosome abnormalities, patients with inherited metabolic diseases as well as children with diverse inherited neuro-metabolic diseases.
It is coordinated by collaboration between the Department of Genetics and the Department of Biomedical Statistics and Scientific Computing.  This proposal was a pilot project.

Dr. Zuhair Rahbeeni Interim Chairman, Department of Medical Genetics,Dr.  Moeen Al-Sayed, Department of Medical Genetics, Dr. Zuhair Al-Hasnan , Department of Medical Genetics,Dr. Mohammed Al-Owain, Department of Medical Genetics, Dr. Mohammed Iqbal, Dept. Pathology & Lab. Medicine, Dr. Mohammed Shoukri, Department of BESC, Dr. Ali Al-Odaib Department of Genetics

A database was designed and established by a close collaboration between the staff of the department of BSSC, Genetics, and Medical Genetics.  This database was comprehensive to cover the following:1. Patient’s personal information (name, age, national number,…..).2. Patient’s tribe and sub-tribe.3. Family history and pedigree.4. Clinical Diagnosis.5. Biochemical Diagnosis.6. Molecular Diagnosis.7. Clinical visits 8. Emergency room visits 9. Treatment (medication, supplements, diet,….) Once the database was completed, NGBDR staff started enrolling patients from 21 pediatrics clinics (Genetics, Metabolic, Cystic Fibrosis, Neurology, and Down Syndrome).  Only Saudi patients with genetic diseases encountered within the system of KFSH & RC were entered. Conclusion: At present,  this is the only comprehensive database for genetic diseases exist in KFSH&RC and in the Kingdom.  After months of deliberations a very extensive registry form is composed as showed above.  During this period, more than 12 bilingual Saudi females were trained as clinical registrars.  This database provides an excellent basis and model to start a National Birth Defect Registry and to identify the problems encountered in Saudi Arabia.  With no doubt, this type of databases will be very useful source of information to physicians, scientists, health care management, disability care institutions, as well as public

King Faisal Specialist Hospital & Research Center

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Ozand P, Al-Odaib A, Sakati N, Hellani A. (2005) Recently available techniques applications to genetic problems in the Middle East. Community Genetics Journal 8(1):44-7.

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