JEDDAH: John Hopkins University has named a new genetic disease after a Saudi woman doctor for contributing to research around the illness.
Wafa bint Mohammad Al-Eyaid, a consultant in endocrine diseases and genetics at the King Abdulaziz Medical City, Ministry of the National Guard in Riyadh, followed 12 cases involving six Saudi families between 2002 and 2010. She found that the children were born underweight despite seemingly normal periods of pregnancy, and had significant softness of the skin around their necks and elsewhere. All of them had heart defects, with some having undergone surgery.
In addition, they had enlarged spleens and livers, with what appeared to be cirrhosis and a shortage of blood platelets. DNA tests showed an imbalance in the gene responsible for an enzyme necessary for the production of antioxidants and ribose for the synthesis of DNA.
Al-Eyaid presented these cases at a conference on genetics in Canada in 2011. The final analysis of the disease was unveiled at a genetics conference in North Carolina in 2012. In early 2015, the human mendelian inheritance website of John Hopkins University named this the Eyaid Syndrome. She said that the Eyaid Syndrome cannot be treated at this stage, but couples with this problem can have in vitro fertilization, with eggs examined before being placed in the uterus.
Arab News
