Advanced genetic blueprint aims to enhance precision medicine in diverse populations

Creation of a comprehensive genetic representation for more than 2.5 billion people across the Middle East and South Asia could make a major contribution towards advancing precision medicine, a publication in Nature Medicine reveals.

Traditional genetic research has mainly relied on linear reference genomes, which is like having a single, standard version of human DNA that scientists compare everyone’s genetic information against. This works well for studying individual genetics but does not capture all the complexities and differences found in diverse populations.

The Arab Pangenome Reference (APR) takes a different approach. Instead of relying on just one “standard” genome, it includes a collection of many different genetic versions specific to the Arab population. This helps scientists see the full picture of genetic diversity, including variations and unique traits that might be missed using the old method.

The international group of researchers was led by Dubai Health’s Center for Applied and Translational Genomics (CATG), Mohammed Bin Rashid University of Medicine and Health Sciences, in partnership with the University of Birmingham Dubai.

Authors included Nasna Nassir, Mohamed A. Almarri, Hosneara Akter, Hamda Hassan Khansaheb, K. M. Furkan Uddin, Ahmad Abou Tayoun, Stefan Du Plessis, Marc Haber, Alawi Alsheikh-Ali and Mohammed Uddin.

Professor Alawi Alsheikh-Ali, Deputy CEO and Chief Academic Officer of Dubai Health and Provost of Mohammed Bin Rashid University of Medicine and Health Sciences, commented, “This publication provides a comprehensive and inclusive perspective on human genetic diversity, ensuring that the unique genetic landscapes of the Middle East and South Asia are represented. Integration of these pangenomes into global genomic databases will unlock new discoveries and represents a vital step in advancing health for humanity.”

Professor Yusra Mouzughi, Provost University of Birmingham Dubai, commented, “At the University of Birmingham, we pride ourselves on ‘research that changes lives.’

“This latest research demonstrates the impact of our strong partnership between the University of Birmingham Dubai and Dubai Health to deliver research that fundamentally advances science and discovery, creating a new understanding of genetic diversity among Arabs and enabling a deeper understanding of the genetic origins of disease.”

Dr. Mohammed Uddin, Director of the Center for Applied and Translational Genomics (CATG) at the Mohammed Bin Rashid University of Medicine and Health Sciences, commented, “The APR is the first reference genome constructed to capture the genetic diversity among Arabs.

“This landmark resource aims to enhance early diagnosis and personalized treatments for genetic diseases that are prevalent in the region. This research uncovered millions of base pairs of novel human DNA sequences, which will contribute to a deeper understanding of the genetic origins of diseases and traits.

“Our goal is to construct graph pangenomes encompassing the entire Middle East and South Asia, aiming to accelerate the adoption of precision medicine in these regions.”

Co-author Marc Haber, from the University of Birmingham Dubai, commented, “The precision offered by pangenomic approaches is particularly beneficial for studying rare and previously undetected disease-causing variants, which paves the way for better understanding and treatment of these conditions, leading to new discoveries in population genetics, disease susceptibility and drug response.”

Professor Stefan Du Plessis, Dean of Research and Graduate Studies at MBRU commented, “At Dubai Health, our Discovery Mission embodies our commitment to innovation, research, and the advancement of health care.

“This publication emphasizes the importance of collaborative research in making advanced genomic references a routine part of diagnostics and health care. As we move forward, this comprehensive genetic approach promises to reshape our understanding of health and disease, ultimately improving health care for millions.”