Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.
Identification of disease-related genes is a critical step in understanding the molecular basis of disease and developing targeted therapies. The genetic study of diseases occurring in the offspring of consanguineous unions is a powerful way to discover new disease genes. Pediatric nephrology provides an excellent example because ∼70% of cases of kidney disease in childhood are congenital with a likely genetic basis. This percentage is likely to be even higher in countries with a high consanguinity rate, such as the Kingdom of Saudi Arabia. However, there are a number of challenges, such as cultural, legal, and religious restrictions, that should be appreciated before carrying out genetic research in a tradition-bound country. In this article, we discuss the background, opportunities, and challenges involved with this unique opportunity to conduct studies of such genetic disorders. Keys to success include collaboration and an understanding of local traditions and laws.
Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. Electronic address: jkari@doctors.org.uk.
Jameela A
JA
Kari
Institute of Child Health, University College London, London, United Kingdom.
Detlef
D
Bockenhauer
Institute of Child Health, University College London, London, United Kingdom.
Horia
H
Stanescu
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Mamdooh
M
Gari
Institute of Child Health, University College London, London, United Kingdom.
Robert
R
Kleta
Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Ajay K
AK
Singh
D035843:Biomedical Research / Q000639:trends*; D003241:Consanguinity; D006801:Humans; D007674:Kidney Diseases / Q000208:ethnology* / Q000235:genetics*; D010372:Pediatrics / Q000639:trends*; D010375:Pedigree; D012529:Saudi Arabia / Q000208:ethnology
Consanguinity; Saudi Arabia; gene discovery; genetic disease; homozygosity mapping; identical by descent (IBD); kidney research; linkage analysis; pediatrics; population differences