Gene detectives solve disease mysteries

14 December, 2022

Since 2016, when he first began collaborating with Saudi clinicians, Stefan Arold and his team have analyzed more than 100 rare genetic diseases. This work, he says, can provide answers to people who have been searching, often for many years, for the cause of an illness or unexplained condition.

Arold and his team use 3D protein structure mapping powered by the latest AI methods and other bioinformatic and computational tools to aid in the diagnosis of genetic diseases in Saudi Arabia.

“Usually, the doctors identify patients with a genetic disease, meaning that the phenotype is caused by one or more mutations in their genome,” Arold explains.

“The clinician sends us the genetic alteration that they think caused the disease, and we use our expertise in structural biology to map this mutation onto the three-dimensional atomic structure of the affected proteins.”

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