Dr. Wafa Al Eyaid discovered the disease after 8 years of research
Online Mendelian Inheritance in Man (OMIM), supervised by Johns Hopkins Medicine, called a newly discovered genetic disease (Eyaid Syndrome) after a Saudi Doctor's name for her efforts in discovering this genetic transaldolase deficiency.
The beginnings of such finding was when Dr. Wafa Mohammed Al Eyaid, an endocrine diseases and genetics consultant at King Abdulaziz Medical City, Ministry of National Guard - Health Affairs - Riyadh, tracked 12 cases of children from (6) Saudi families during the period 2002 - 2010. All 12 cases had similarities in terms of underweight, although they were all born in the ninth month of pregnancy.
In addition, some of them presented with wrinkly skin around their necks and extremities, cardiac defects, hepatosplenomegaly and anemia. DNA tests showed transaldolase deficiency, essential for producing antioxidants and ribose which is found in the DNA.
Dr. Al Eyaid presented those cases in the Canadian Human Genetics Conference, which was held in Vancouver, Canada, 2011, a major global conference which brings together more than 10,000 specialists around the world in the field of genetics to exchange experience and keep up with the recent developments and research. After that, the final results and diagnosis of this disease were presented in genetics conference held in North Carolina in 2012. However, in early 2015, Online Mendelian Inheritance in Man (OMIM), supervised by Johns Hopkins Medicine, called the newly discovered genetic disease (Eyaid Syndrome) after Dr. Wafa Mohammed Al Eyaid.
Additionally, Dr. Al Eyaid explained that there is no cure " Eyaid Syndrome" at the moment except for heart surgeries, or the transfer of platelets in case of hemorrhage. Nevertheless, the discovery of the genetic gene for the syndrome, will make it possible to avoid the appearance of the disease for future pregnancies, through the use of IVF and the examination of a fertilized egg before the embryo transfer procedure.
Last but not least, Dr. Wafa Mohammed Al Eyaid is considered one of the top genetic consultants in the Kingdom and is a published author in several medical journals.