Saudi Doctor discovers a new genetic disease

a new genetic disease

 

Dr. Maha Faden  A Genetic Consultant at King Saud Medical City, the Head of the genetics Unit in collaboration with the Genetic Consultant  and researcher at the King Faisal Specialist Hospital, Dr. Fauzan Alkraa discovered a new genetic disease that causes an imbalance in bone growth.

Saudi Doctor discovers a new genetic disease

Dr. Maha reported that she began to identify the disease when she checked  a family has four children were suffering from pathological changes that are not recognized in the world before.

The children had been suffering from short height, with small size of head, hands and feet, in addition to a change of facial features, partial relaxation of the eyelid, mental disability and the curvature of the back.

She emphasized that the signs of the disease begin to appear in childhood, which are small head size, deficiencies in the longitudinal growth, the child is infected with a gradual deterioration in the bones of the vertebrae and the bones of long-parties, and change the bones of the articular hip and knee, which results in the inability to control the lower limbs, and therefore the child becomes on a wheelchair..

The researcher Fatima Al-Zahrani and the team of research specialist center have found the boom causing the disease in gene (RSPRY1) responsible for the production of protein, that tests have shown that it has a major role in bone formation..

Dr Maha said that the search occurred published in the American magazines interested in genetics and specialized in this field, such as The American Journal of Human Genetics, and it  has been named on its her name by the (Spondyloepimetaphyseal Dysplasia, FADEN-Alkuraya type) The world famous site of human Mendelian genetics on the Internet (OMIM ).



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