Khalid A. Fakhro PhD

Chief Research Officer and Chair of the Precision Medicine Program, Sidra Medicine
Professor of Genomics, College of Health and Life Sciences, HBKU
Khalid A. Fakhro PhD

Dr. Khalid Fakhro is the Chief of Research and Chair of the Precision Medicine Program at Sidra Medicine, the largest tertiary care women and children hospital in Qatar. Dr. Fakhro leads the Laboratory of Human Genetics and Genomics, which focuses on bringing emerging genomic technologies from the lab close to the patient’s bedside. Over the past decade, his group has sequenced thousands of genomes from patients and volunteers across the Middle East, leading gene discovery efforts for a wide range of rare disorders, as well as publishing landmark studies on population structure, genome structural variation, and the role of Islamic ethics in genome research. To date, his lab has been awarded competitive grants exceeding $8m to study genome structure and the genetic etiology of rare diseases and Autism, and their discoveries have featured in high-impact journals worldwide. In addition to research and hospital duties, Dr. Fakhro serves multiple leadership roles in Qatar’s growing biomedical ecosystem, including as a Board Member of the Qatar Precision Medicine Institute and Adjunct Professor at both Weill-Cornell Medical College and Hamad Bin Khalifa University, where he teaches and supervises Masters and Ph.D. students in genomics and precision medicine.

Our laboratory is interested in interpreting the human genome (the instruction book of life). We approach this question from three fronts:

  1. We study the genetic basis of rare disorders and Autism in patients at Sidra Medicine. Due to a combination of consanguinity and unique environmental exposures, the Qatari population is very well suited for such gene mapping studies. Our lab primarily uses whole-genome sequencing for gene discovery, with a focus of building long-term cohorts and encouraging responsible data sharing for continued discovery in the future.
  2. We are interested in the genetic structure of Arab populations, which are severely under-represented in global databases. Using short- and long-read sequencing technologies, we identify single mutations as well as large variants (structural variants, e.g. deletions, duplications, inversions, translocations, etc.) in the genomes of both healthy and sick individuals. Together, these feed into novel reference genomes (and graph genomes) for Qatar.
  3. We augment both of the above endeavors with other high-throughput data, such as gene expression (RNA-sequencing), metabolomics and epigenetics to link genetic variation with downstream functional consequences. We also use models such as zebrafish and cell culture to help us better understand pathophysiology in our patients, and to effectively identify personalized treatment options for the future.

Aljazi Al-Maraghi, MD
Post Doctoral Fellow
Email: aalmaraghi (@) sidra.org

Alya Al-Kurbi
Specialist – Research I
Email: AAlKurbi2 (@) sidra.org

Amal Hussein
Research Specialist
AHussein (@) sidra.org

Elbay Aliyev
Research Specialist lV
Email: ealiyev (@) sidra.org

Geethanjali Devadoss Gandhi
Specialist – Research III
Email: gdevadossgandhi (@) sidra.org

Ilaria Poggiolini PhD
Post Doctoral Fellow
Email: IPoggiolini (@) sidra.org

Mona Mahmoud Abdi
PhD Student
Email: MAbdi-extern (@) sidra.org

Muhammad Khir Abdullah Kohailan
PhD Student
Email: mkohailan (@) hbku.edu.qa

Navaneethakrishnan Krishnamoorthy, PhD
Staff Scientist
Email: nkrishnamoorthy2 (@) sidra.org

Njoud Al-Naama
Research Specialist II
Email: nalnaama (@) sidra.org

Omayma Al-Saei
Specialist – Research III
Email: oalsaei (@) sidra.org

Sasirekha Palaniswamy, PhD
Staff Scientist
Email: spalaniswamy (@) sidra.org

Shoaib Nawaz, PhD
Research Specialist III
Email: SNawaz1 (@) sidra.org

Waleed Aamer, PhD
Senior Post Doctoral Fellow
Email: waamer (@) sidra.org

Selected publications:

  1. Rare variants in PCSK9, APOB and LDLR associated with LDL Cholsterol and Familial Hypercholesterolemia in a large Middle Eastern biobank. J Transl Med. 2022 Nov 3; 20(1):502. PubMed
  2. Genomic Architecture of Autism From Comprehensive Whole-Genome Sequence Annotation. Cell. 2022 Nov 10;185(23):4409-4427.e18. PubMed
  3. A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. Eur J Med Genet. 2022 Oct 3:104629. PubMed
  4. Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model. Int J Mol Sci. 2022 Aug 9;23(16):8840. PubMed
  5. GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics 2021 Nov 10;1(2):100029. PubMed
  6. Metabolic and Metabo-Clinical Signatures of T2D, Obesity, Retinopathy and Dyslipidemia. Diabetes 2021 Nov 3:db210490. PubMed
  7. Genomic medicine in the Middle East. Genome Med. 2021 Nov 23;13(1):184. PubMed
  8. Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes. Nat Commun. 2021 Oct 12;12(1):5929. PubMed
  9. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2021 Oct 4:369:909-924. PubMed
  10. Patterns and distribution of de novo mutations in multiplex Middle Eastern families. J Hum Genet. 2022 Oct;67(10):579-588. PubMed
  11. A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay. Eur J Med Genet. 2022 Apr;65(4):104455. PubMed
  12. Identification of mutation resistance coldspots for targeting the SARS-CoV2 main protease. IUBMB Life. 2021 Apr;73(4):670-675 [Issue Cover] PubMed
  13. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. 2021 Mar 3;144(2):584-600. PubMed
  14. Ethnic-specific association of adiposity traits to amylase gene copy number in a large Middle Eastern biobank. NPJ Genom Med. 2021. Feb 9; 6(1):8. PubMed
  15. Genomics of Autism. Adv Neurobiol. 2020; 24:83-96. PubMed
  16. Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. Hum Mol Genet. 2019 Dec1;28(23):3970-3981. PubMed
  17. Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med. 2018 Nov;20(11):1365-1373. PubMed
  18. Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population. Nat Communications. 2018 Jan 23;9(1):333. PubMed
  19. The Qatar genome: a population-specific tool for precision medicine in the Middle East. Hum Genome Var. 2016 Jun 30;3:16016. PubMed
  20. Copy number variations in the genome of the Qatari population. BMC Genomics. 2015 Oct 22;16:834. PubMed

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