5 April 2025, Doha, Qatar – In a groundbreaking advance for precision medicine and rare disease diagnosis, researchers at Sidra Medicine, a member of Qatar Foundation, have led a landmark genetic study that significantly enhances the representation of Middle Eastern populations in genomic research.

Published in the prestigious journal Nature Genetics, the study titled “Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery” presents the first near-complete genome assemblies from the region. Leveraging long-read sequencing and de novo genome assembly, the research reveals new pathways to understand and resolve complex, undiagnosed neurodevelopmental disorders affecting families in Qatar, Sudan, Jordan, Syria, and Afghanistan.

A New Era for Middle Eastern Genomics and Rare Disease Diagnosis

The study provides a critical reference resource for the Middle East, filling major gaps in global genomic databases and offering a transformative tool for identifying disease-causing genetic variants. By constructing full genome sequences from scratch, the Sidra Medicine team achieved unprecedented accuracy, setting a new benchmark for population-specific genomic mapping.

“We used long-read sequencing to gain deep insights into the genomes of Middle Eastern families affected by rare diseases,” said Prof. Younes Mokrab, Head of Medical and Population Genomics at Sidra Medicine. “This approach uncovers pathogenic variants that have remained elusive for years. It’s a game-changer for genomic medicine in the region.”

Key Highlights of the Study:

• Utilized long-read sequencing for highly accurate genome assemblies.
• Studied six Middle Eastern families with unresolved rare neurodevelopmental disorders.
• Produced fully mapped, phased maternal and paternal genomes, aiding accurate diagnosis.
• Established novel genetic references for Middle Eastern ancestries, supporting precision health.

Prof. Evan Eichler, renowned genome scientist and co-author from the University of Washington, emphasiSed:
“This work is essential for uncovering the full spectrum of genetic variation behind disease. It represents the future of clinical genomics, offering hope to families with previously unsolved conditions.”

Driving Innovation in Precision Medicine and Global Health Equity

Despite major strides in global genomics, Middle Eastern populations remain underrepresented in current genome references. Sidra Medicine’s research addresses this inequity by delivering a tailored genome dataset to improve diagnosis, treatment, and understanding of genetic diversity.

“Our latest findings show that long-read technologies are essential for the next era of genetic discovery,” said Prof. Khalid A. Fakhro, Chief Research Officer at Sidra Medicine. “We’re now able to identify mutations missed by standard sequencing, paving the way for better outcomes in clinical care.”

The implications go beyond medicine. The genetic insights from this study will also contribute to anthropological and population migration research, enhancing global understanding of Middle Eastern genomic evolution.

Collaborative Impact and Future Directions

Dr. Hamdi Mbarak, Director of Research at Qatar Precision Health Institute, remarked:
“With over 25,000 Qatari genomes currently being analySed, the timing of this high-resolution reference for Middle Eastern genetics couldn’t be more critical.”

Looking ahead, Prof. Mokrab emphasised the importance of expanding this initiative:

“Our goal is to create a comprehensive Middle Eastern pangenome, integrating regional data into global initiatives. Together with our international partners, we aim to make these breakthroughs accessible and impactful for all.”

Supported by Qatar’s Leading Research Institutions

This study was made possible through the support of:

• Sidra Medicine
• Qatar Genome Programme
• Qatar National Research Fund (QNRF)

To explore more about Sidra Medicine’s research on genomic science, visit www.sidra.org/research.
Read the full study here: Nature Genetics Article