Qatar’s pursuit of precision medicine was the motivation for the launch of the Qatar Twin Registry (QTR) project, the region’s first initiative of its kind, to study genetic diseases and traits in twins.
Funded by Qatar University (QU) and led by Dr Mashael al-Shafai, associate professor in human genetics at the QU, the project involves collaboration with Qatar Foundation (QF) entities Sidra Medicine and Qatar Precision Health Institute (QPHI) to create the country’s first twin registry.
“How do others figure out who is who?” and “Do you think and feel the same way?” are questions that shaped the interest of twin sisters Dr Mashael al-Shafai and Dr Kholoud al-Shafai as they grew up.
Dr Mashael al-Shafai was driven to study human genetics during her undergraduate studies, as was Dr Kholoud al-Shafai.
“The questions we had at childhood became a motivation for us to specialise in human genetics, although at the time there was no clarity about the career opportunities that awaited us,” says Dr Kholoud al-Shafai, a staff scientist at Sidra Medicine.
The sisters began their academic journey in 2006 by studying human genetics at the University of Leeds.
“At that time, the field of precision medicine was still in its infancy in Qatar,” said Dr Mashael al-Shafai. “In our graduation year, 2009, Qatar introduced mandatory premarital genetic testing, an important milestone in the country’s drive towards precision medicine.”
The sisters joined the QF and were supported by its research division to pursue graduate studies.
“After obtaining my PhD from Imperial College in London in 2016, through a sponsorship by the QF, I joined the department of Biomedical Sciences at Qatar University and conducted several studies on the genetics of many inherited conditions, such as monogenic obesity, retinal dystrophy, and hearing loss,” said Dr Mashael al-Shafai.
The QTR project collects and analyses data from pairs of twins – both identical and fraternal – to study the genetic and environmental factors that influence health, behaviour, and disease.
“More than 100 pairs of twins have registered so far,” said Dr Kholoud al-Shafai, who is collaborating on the project alongside her sister and QPHI director (Research and Partnerships) Dr Hamdi Mubarak.
The registry accepts twins of all nationalities and ages, with a focus on the Middle East, and participation is through the Qatar’s Twin Registry clinic at the QPHI or through home visits.
“The project aims to study common diseases such as heart disease, diabetes and obesity, with plans to expand analyses in the future to include other diseases,” said Dr Kholoud al-Shafai.
Dr Mashael al-Shafai explained that identical twins are an ideal research tool for understanding the influence of genes and environment on different traits and diseases, as identical twins share 100% of their genes, compared to 50% in non-identical twins.
This diversity helps distinguish between genetic and environmental factors.
For example, studies suggest that the occurrence of autism among pairs of identical twins is around 90%, compared to around 5% among non-identical twins, which highlights an important genetic factor in autism.
The success of the project depends on the participation of twins, Dr Kholoud al-Shafai said, adding: “The more twins who participate, the more accurate and comprehensive the results will be.”
“The registry allows Qatar to play a prominent role in international twin research, especially in light of the lack of accurate statistics in the region,” she added.
The registration process takes less than two hours, and organisers ensure data confidentiality by coding the data during the analyses, with the outcomes being solely used for research purposes.
Dr Kholoud al-Shafai
Dr Mashael al-Shafai
