Gene study vital for treatment: Expert

By Fazeena Saleem / The Peninsula

Genetic research is the main foundation for mapping the population and treating common and rare diseases, says a geneticist at Sidra’s Research Branch.
Mapping the population will help to find the population genetics as well as disease genetics, said Dr Khalid Fakhro (pictured), an Investigator in Human Genetics at Sidra Medical and Research Center, and an Assistant Professor in Genetic Medicine at Weill Cornell Medicine Qatar.
“Sidra’s Research Branch continues to lay significant groundwork that will lead to improved health care outcomes in Qatar. But we are not alone in this, and 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 health care stakeholders, since we have additional leeway in the research community to experiment with cutting edge technologies,” he said, speaking on the sidelines of Sidra’s annual functional genomics symposium: Nature versus Nature, organised in collaboration with the journal Nature Genetics.
Dr Fakhro’s expertise has seen him play key roles in multiple projects in Qatar, where he has actively focused on ‘bridges of collaborations’ with educational and research institutions locally and globally.
“We have access to some of the world’s best technologies,” he said, “allowing us to really push genetic research to the next level. 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.”
Dr Fakhro, who is from Bahrain, believes the entire GCC should unify under a single genome sequencing umbrella. His coming to Qatar was due to the significant investment in genomics that the country has made recently, including the launch of the national genome programme and the establishment of leading faculties and institutes that specialise in biomedical research.
“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 enriched specific gene sets necessary to survive and thrive. This not only provides us with interesting academic insight into population history, but has major implications on what diseases we are most susceptible to,” he said.
“In the second stream, the focus is on diseases, and specifically genetic diseases. These are usually sub-divided 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 added.
Dr Fakhro explained that in populations with high consanguinity (blood relations), there is a higher rate of rare diseases clustering in families, and that there is a need to track these diseases in Arab countries. “There is very limited epidemiological data available, unfortunately, 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 in the GCC, we see the same kind of disorders occurring again and again,” he said.
The other big factor with rare diseases is that they usually require very expensive interventions. A newborn with a hole in the heart requires highly complex surgeries, including follow up care over a long period of their life. The financial burden is huge.
“Our research into this stream is not only to discover genes that cause such diseases, but through functional genomics we hope to discover treatment methodologies,” said Dr Fakhro. “However to further medical science and research in this field it is essential to sequence every single family with rare diseases to discover their specific mutations,” he said.
Gene sequencing is the procedure of reading every gene’s DNA in the genome — something which Sidra will be offering to patients with rare diseases and their families.
Besides rare diseases, generic research will help find treatment for common diseases such as obesity and diabetes.