Dr. Mashael Al Shafai (left) and Dr. Kholoud Al Shafai
Doha, Qatar: Twin geneticists Dr. Mashael and Dr. Kholoud Al Shafai talk about the vital health insights that analysing data from twins. “How do others figure out who is who?” “Do you think and feel the same way?” These questions shaped the interest of twin sisters as they grew up.
Dr. Mashael, Associate Professor in Human Genetics at Qatar University (QU) was driven to study human genetics during her undergraduate studies, as was Dr. Kholoud. “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,” said Dr. Kholoud, a staff scientist at Qatar Foundation’s (QF) 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.
“In our graduation year, 2009, Qatar introduced mandatory premarital genetic testing, an important milestone in the country’s drive towards precision medicine.”
Mashael and Kholoud then joined QF and were supported by its research division to pursue their graduate studies. “After obtaining my PhD from Imperial College in London in 2016, through a sponsorship by 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. “These studies have shed light on novel variants contributing to such diseases.”
Dr. Kholoud added, “My passion is to unravel genetic causes of different diseases and malformations, with a major interest in cardiology, and I’m conducting research related to congenital heart disease and different types of inherited heart conditions such as cardiomyopathies and cardiac channelopathies.”
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 and led by Dr. Mashael, the project involves collaboration with QF entities Sidra Medicine and Qatar Precision Health Institute (QPHI), with its aim being to create the country’s first twin registry.
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, who is collaborating on the project alongside Dr. Mashael and Dr. Hamdi Mubarak, Director of Research and Partnerships, QPHI.
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 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.
Dr. Mashael explained that twins are an ideal research tool for understanding the influence of genes and environment on different traits and diseases, as identical twins share 100 percent of their genes, compared to 50 percent in non-identical twins. This diversity helps distinguish between genetic and environmental factors; for example, studies suggest that occurrence of autism among pairs of identical twins is around 90 percent, compared to around five percent among non-identical twins, which highlights an important genetic factor in autism.
“With the advancement of technology, twin studies will continue to be an important tool in shedding light on behavioural genetics,” said Dr. Mashael.
