AGEING AND THE BRAIN
KAIMRC’s Medical Genomics Research Department is the only unit of its kind in Saudi Arabia, taking patients from initial genetic testing to a formal diagnostic report.
Uncovering the genetic roots of rare developmental disorders Clinical genomics experts are profiling patients and their families to diagnose childhood diseases that derail healthy neurological development
P
olicy-makers and researchers use ‘rare disease’ to describe a disorder that affects a small percentage of the population, but the term is slightly misleading—collectively, these
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disorders are estimated to affect roughly 5% of the world’s population. However, this collective figure comprises thousands of debilitating disorders and syndromes that are each very uncommon,
some arising in fewer than one in a million newborns. Discovering the basis of these diseases not only offers the possibility of screening for them – and perhaps developing treatments – but also improves understanding of human development. These conditions can often be traced to malfunctions in just a single gene, and Majid Alfadhel’s team at the Medical Genomics Research Department (MGRD) at KAIMRC is actively engaged in tracking down these causative mutations. “The conditions that most interest me are known as ‘inborn errors of metabolism’,” says Alfadhel, chairman of the MGRD referring to a category of genetic disorders that interfere with essential enzymatic pathways underlying the manufacture and digestion of fats, proteins and other biomolecules. A subtle mutation in an enzyme can have far-reaching consequences. For example, it could lead to the accumulation of toxic chemical intermediates, or deficiencies in necessary cellular building
