Innovation Program on Genomic Medicine
Developing Better diagnostics and Treatments for Genetic Diseases in Saudi Families
The genetic disorders that affect the Saudi child represent a huge economic and emotional burden, yet remain remarkably poorly understood. Developmental orphan disorders and many other malformations reflect a great diversity of causes, largely genetic. Hundreds of different genes can give rise to any one of these developmental disorders and possibly also other chronic diseases such as metabolic disorders, cancer and neurological diseases. This genetic diversity, or “heterogeneity,” has thwarted attempts to identify genetic causes for more than a handful of conditions, leaving many families of affected children without the benefit of a specific diagnosis. Yet, definitive mechanistic diagnoses are the only way forward towards the treatments of the future precision and personalized medicine.