Evidence map›Paper›PMID 39901015›Full record

ReviewNature genetics2025

Genomics of rare diseases in the Greater Middle East.

Ikram Chekroun, Shruti Shenbagam, Mohamed A Almarri, Younes Mokrab, Mohammed Uddin, Omer S Alkhnbashi, Maha S Zaki, Hossein Najmabadi, Kimia Kahrizi, Khalid A Fakhro and 7 more

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Bietti crystalline dystrophy in Türkiye: A genetic crossroads between Asia and Europe.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Article
  5. Article
  6. Article
  7. Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Ikram ChekrounCollege of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Shruti ShenbagamAl Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.ORCID http://orcid.org/0009-0000-1470-4875
Mohamed A AlmarriCollege of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.ORCID http://orcid.org/0000-0003-1255-0918
Younes MokrabResearch Branch, Sidra Medicine, Doha, Qatar.ORCID http://orcid.org/0000-0003-1611-6692
Mohammed UddinCollege of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Omer S AlkhnbashiCollege of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.ORCID http://orcid.org/0000-0001-8088-590X
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.ORCID http://orcid.org/0000-0001-7840-0002
Hossein NajmabadiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Kimia KahriziGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Khalid A FakhroResearch Branch, Sidra Medicine, Doha, Qatar.ORCID http://orcid.org/0000-0002-3150-1276
Naif A M AlmontashiriCollege of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Kingdom of Saudi Arabia.
Fahad R AliCollege of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Uğur ÖzbekRare and Undiagnosed Disease Platform, IBG-Izmir Biomedicine and Genome Center, Izmir, Türkiye.ORCID http://orcid.org/0000-0001-5319-0547
Bruno ReversadeLaboratory of Human Genetics and Therapeutics, Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.ORCID http://orcid.org/0000-0002-4070-7997
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.ORCID http://orcid.org/0000-0003-4158-341X
Alawi Alsheikh-AliCollege of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.
Ahmad N Abou TayounCollege of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE. ahmad.tayoun@dubaihealth.ae.ORCID http://orcid.org/0000-0002-9134-1673

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Greater Middle East (GME) represents a concentrated region of unparalleled genetic diversity, characterized by an abundance of distinct alleles, founder mutations and extensive autozygosity driven by high consanguinity rates. These genetic hallmarks present a unique, yet vastly untapped resource for genomic research on Mendelian diseases. Despite this immense potential, the GME continues to face substantial challenges in comprehensive data collection and analysis. This Perspective highlights the region's unique position as a natural laboratory for genetic discovery and explores the challenges that have stifled progress thus far. Importantly, we propose strategic solutions, advocating for an all-inclusive research approach. With targeted investment and focused efforts, the latent genetic wealth in the GME can be transformed into a global hub for genomic research that will redefine and advance our understanding of the human genome.

Indexed as

GenomicsRare DiseasesConsanguinityGenetic VariationGenome, HumanHumansMiddle East

Identifiers

PMID39901015

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.