Genome research aims to map population, treat diseases

By Joseph Varghese

The genome research in Qatar is competitive at the international level and focuses on mapping the population as well as treating common and rare diseases, a senior geneticist has said.

“We have access to some of the world’s best technologies allowing us to push genetic research to the next level,” said Dr Khalid Fakhro.

An investigator in Human Genetics at Sidra Medical and Research Center (Sidra), Dr Fakhro is an assistant professor in genetic medicine at Weill Cornell Medicine-Qatar.

“We are competitive at an international level now, creating comprehensive Qatari genomic databases which will form the building blocks for precision medicine, not only in Qatar, but in the wider Middle East,” he said.

“Sidra’s research branch continues to lay significant groundwork that will lead to improved healthcare outcomes in Qatar. We have been working collaboratively with other institutions in Qatar to foster a nationwide genomics community. However, our role in this pursuit of precision medicine is slightly different from other healthcare stakeholders, since we have additional leeway in the research community to experiment with cutting edge technologies,” he highlighted.

“In my lab, we focus on two main streams – population genetics and disease genetics. When it comes to the population level, there are big questions we are trying to answer, such as, where did this population come from, what was our ancestral migration history and what challenges did our forefathers face, which enrich for specific gene sets necessary to survive and thrive,” explained the scientist.

“In the second stream, the focus is on diseases, and specifically genetic diseases. These are usually subdivided into two big pools – rare and common disorders. Rare diseases include cystic fibrosis, muscular dystrophies and Mendelian disorders, which are diseases that affect a few people. However because they are rare, they are usually much more severe, usually appearing in childhood and, without medical intervention, causing loss of life.” he continued.

“The second category of disease is common disorders, such as diabetes, obesity and asthma. In common disorders, there is a very big environmental impact involved. This is something that our recent functional genomics conference addressed in the theme ‘Nature vs Nurture’ – by discussing and reviewing how genetics conspires with environmental factors to influence such conditions,” he noted.

Dr. Fakhro noted that in populations with high consanguinity, there is also a higher rate of rare diseases clustering in families.

“There is very limited epidemiological data available right now, so we sometimes struggle to understand the true impact of disease on society. While rare disorders on an individual scale might seem uncommon, collectively over time they are becoming quite common. Especially in closed, tightly knit societies like we have in the GCC, we see the same kinds of disorders happening again and again. So in aggregate, rare diseases can affect a much larger population,” he observed.

“The other big factor with rare diseases is that they usually require very expensive interventions. Our research into this stream is not only to discover genes that cause such diseases, but through functional genomics, we hope to discover effective treatment methodologies,” told the scientist.

According to Dr. Fakhro, the whole genome sequencing will play a very big role in mapping and understanding rare diseases but it will have limited success with common diseases. “However, there is a consensus that we can improve the quality of care for patients through ‘personalised medicine,’ but the path towards that goal is going to be tough and challenging,” he added.