A Saudi research team from Qassim University has discovered an extremely rare genetic disorder, Bethlem Myopathy, for the first time in the Arab world. The disorder was identified in a Saudi child, shedding light on the potential genetic implications of consanguineous marriages. The genetic sequencing was conducted domestically, in line with the national policy of localising genetic testing within Saudi Arabia. The research Dr. Haitham Al Dhari, assistant professor and senior specialist in Medical Genetics at Qassim University, said: “Our research team focuses on genetic diseases, particularly rare disorders. The project initially aimed to study Duchenne muscular dystrophy in the Qassim region. This research was conducted in collaboration with Dr. Hamdan Abu Al Bashar, associate professor at the university’s medical college, with support from the Deanship of Scientific Research.” The team first identified a group of patients previously diagnosed with Duchenne muscular dystrophy, which led them to connect with a family whose case later became the subject of a published scientific paper. Within the family, one of four children displayed symptoms including muscle weakness, difficulty in movement, and delayed physical activities. “We visited the family and discovered that the youngest brother was also starting to show symptoms,” Dr. Al Dhari said. […]