By carrying out genomic analysis of diseases, geneticists can identify families at risk and save many lives
Cardiovascular disease is the number-one cause of death in the United Arab Emirates (UAE), but this family of illnesses – which includes both rare and common ones – is underdiagnosed and undertreated.
Nadia Akawi, a geneticist at UAE University (UAEU), is working to change that. “All the risk factors – obesity, hypertension, diabetes – are common here,” says Dr Akawi, who returned to UAEU last year after completing two postdoctorate fellowships at the Wellcome Sanger Institute and the University of Oxford in the UK.
In her work, Dr Akawi aims to pinpoint the genetic factors that put people at risk for cardiovascular disease. “If we know the risk factors and pathogenic genetic variants, whole families at risk will be diagnosed early on, a long time before they develop symptoms,” she says.
In collaboration with researchers from the University of Oxford and the National University Heart Centre in Singapore, Dr Akawi is working to create a biobank populated with data derived from samples obtained from people with these diseases, which will be used to decipher their genetic components.
Building on her research at the Wellcome Sanger Institute, she is also assisting researchers in her department with their investigations into rare diseases. This work covers more than 6,000 rare diseases and, although the name implies they are uncommon, they affect about 300 million people worldwide.
“In the UAE, a lot of rare severe diseases go undiagnosed, and this has a direct impact. The recognition of the underlying causal genetic abnormality will help the family to have offspring without this devastating condition,” Dr Akawi explains. Research into these diseases has historically been relatively neglected, she says. “People are not interested in knowing the causes of diseases that they will never see again, but it is vital for families who may have many children suffering from the same conditions.”
In her work at the Wellcome Sanger Institute, Dr Akawi identified four new rare developmental disorders based on the analysis of genomes from more than 4,000 families. Her research was published in the journal Nature Genetics. As part of her PhD at UAEU, Dr Akawi had worked on a family-by-family basis, and that experience was essential to understanding and interpreting the data from all 4,000 families, she says.
“We are trying to do the same thing here. [Find a] cohort of people with rare diseases and analyse their samples and reveal the disease-causing genes and mutations within their genomes," she explains.
A decade ago, Dr Akawi was part of the UAEU’s first group of PhD students. Around that time, the university had just obtained a sequencer, and she established the protocol to run it. Today, the university’s genomics laboratory boasts an array of high-tech equipment and world-leading research groups.
When asked where she would like the department to be in another decade, Dr Akawi expressed hopes that the department of genetics and genomics at the UAEU’s College of Medicine and Health Sciences (CMHS) will become a referral centre for genetic diseases in the region. “This is my dream – that we will become a research referral centre where all the undiagnosed cases come,” she says. “We have the capacity and expertise to produce and analyse the data, and the collaborators to work with us.”
Find out more about the department of genetics and genomics at the UAEU CMHS.
