Malayali scientist develops first Arab pangenome, bridging global genetic data gap

There is a thought-provoking book by Cat Bohannon titled Eve (2023). Written as a chronicle of what 200 million years of evolution have done to the female body, it begins with a striking observation: while the male and female body differ in many respects, anatomical studies throughout history have mostly focused on men. Medicines and treatment methods developed on that basis have then been applied to women as well. In other words, modern medicine was built with inadequate representation of the female body!

A parallel can be drawn with the field of pangenome studies in population genetics.

A genome is the complete genetic material of a living being—the totality of information encoded in the DNA of an individual. Similarly, a pangenome is the collective genome of a species, or of different sub-populations within it. It brings together the genetic data of multiple individuals from the same group to provide a more complete representation of the human genome. The term ‘pangenome’ entered scientific vocabulary in 2005.

By combining genetic sequences from multiple individuals of a population, a pangenome reference captures the full spectrum of variations present in that group. It helps researchers identify rare mutations, structural variations and population-specific genetic patterns. Such datasets play a crucial role in modern medical science—assessing disease susceptibility, evaluating drug response and designing new therapeutic approaches. But just as Bohannon points out that the female body has been marginalised in medical research, communities absent from genomic databases are rendered “invisible” in medical discovery too. Their unique genetic signatures do not find adequate representation in drug research and treatment strategies.

Dr Nasna Nassir leads first Arab pangenome reference
Until recently, global medical research relied primarily on Western genomic data. Large ethnic groups, including the Arabs, were absent from these datasets. Now, that imbalance is being addressed—with the initiative steered by Dr Nasna Nassir, a leading figure in population genetics from Vadakara, Kozhikode.

The landmark achievement was published in Nature Communications on July 24, 2025, announcing the successful creation of the first Arab Pangenome Reference (APR). The lead author of the paper is Dr Nasna, an Assistant Professor at the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU) in the UAE. She also heads the Arab Pangenome Project at MBRU’s Centre for Applied and Translational Genomics (CATG).

PanScan: Simplifying complex pangenome analysis

The first APR was built by sequencing the DNA of 53 individuals belonging to diverse Arab tribal groups residing in the UAE. Advanced genomic technologies were employed, and the research team, under Dr Nasna’s leadership, also developed a novel bioinformatics tool named PanScan for this purpose.

Professor Alawi Alsheikh-Ali, director general of Dubai Health Authority and a co-author of the paper, hailed the achievement as a “milestone that strengthens the UAE’s position in genomic research”.
 

Through the sequencing process, Dr Nasna and her team identified 112 million base pairs of novel DNA sequences. They also discovered 9 million small genetic variations and 2,35,000 large structural variations previously unrecorded in global datasets.

Dr Hanan Al Suwaidi, acting provost of MBRU and another co-author, noted, “The capabilities of CATG’s lab played a crucial role in this success. Every stage, from genetic sequencing to bioinformatics, was completed within the lab itself.”

During the study, the researchers made a particularly notable discovery: multiple copies of a gene called TAF11L5, absent in other global pangenome references, were found in all Arab tribal groups sequenced. The gene may be linked to regulating the activity of other genes and possibly contributes to an increased risk of certain diseases among Arab populations. However, further research is required to confirm these associations.

Implications for medical research and clinical genomics

“This pangenome reference represents a major step forward in understanding the genetic diversity of Arab populations. It will continue to serve as a vital resource for research, discovery and clinical genome diagnostics, with long-term benefits for future generations in the region,” said Dr Mohammed Uddin, director of CATG, associate professor at MBRU and senior author of the paper.

Analysing pangenomes is an exceptionally complex task. The PanScan tool, developed as part of this project, is designed to simplify that process. Though not originally the main aim of the research, its creation turned out to be a major contribution.

“PanScan enables researchers to detect gene duplications, novel DNA variations and intricate DNA structures in pangenome studies,” explained Dr Nasna.

The PanScan tool has been made publicly available on GitHub. “The UAE research community decided to share it openly to support similar efforts worldwide,” she added.

Academic journey and global contributions of Dr Nasna Nassir
Dr Nasna’s academic journey began with a degree in Biotechnology at the National Institute of Technology (NIT), Kozhikode, followed by a Master’s and PhD in Developmental Genetics at the Indian Institute of Technology Madras (IIT Madras). She later pursued research at Osaka University, Japan, specialising in calcium imaging using the advanced technique of Fluorescence Resonance Energy Transfer (FRET). Afterwards, she joined MBRU in Dubai. In 2023, she also completed an executive course on AI in Healthcare at the MIT Sloan School of Management, USA.

She is daughter of K K Nassir (retired senior manager, Indian Bank) and Zakina VV, a postgraduate in Economics, from Kainatti in Vadakara. Her sister Hanna Nassir is a medical doctor. Dr Nasna is married to Ajmal, a senior engineer at ORF Sharjah, hailing from Thrissur. They live in Dubai with their four-year-old son Ihaan.