When a family brought their four children to Dr. Maha Faden, she was confused. The kids were short and had small heads, hands and feet with intertwined toes. They had mental disabilities and curved backs as well as changes in their facial features. These symptoms had never been diagnosed before.
Dr. Faden is a hereditary consultant and is the head of the Hereditary Unit at King Saud Medical City, so this encounter spurred her to find the cause of their illness. It eventually led to her discovery of a new hereditary disease, which was named after her in her honour.
Doctor Maha Faden
The disease, known scientifically as Spondyloepimetaphseal Dysplasia, Faden-Alkuraya type, causes bone growth disorder and can eventually cause legs to stop functioning properly. The research team identified the mutation that causes the disease as RSPRY1, which is responsible for producing a protein substance that has an important role in bone formation.
The discovery was made in cooperation with King Faisal Specialty Hospital hereditary consultant and researcher Dr Fozan Al-Krei’, and the research has been published in the leading American Journal of Human Genetics.
