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