Department of Genetics & Genomics

Facilities

The UAEU Genomics Laboratory has been established as a center of excellence for research to ultimately reduce the impact of genetic disease on the UAE community. This new laboratory contains state of the art equipment and technologies for studying Genomics, Metabolomics and Bioinformatics.

The Genomics laboratory is equipped with Next Generation Sequencing (NGS) platforms such as NovaSeq 6000 sequencing system, MiSeq Sequencing System in addition to Biomek i7 Liquid Handling system, Covaris LE220-plus- Focused Ultrasonicator, Automated DNA isolation system (QiACube and QiACube HT), RT-PCR- Machine (QuantStudio 7 Flex), PCR Robotic workstation, several PCR machines and other ancillary and small equipment.

Bioinformatics Platforms for ultra-rapid sequencing analysis are installed with full operational support from the CMHS and central IT team. An in-house information management system is being developed to track and mange samples that can streamline the workflow. 

Advanced technologies in biochemical genetics and metabolomics include Tandem mass spectrometer, Gas chromatography mass spectrometry, High Performance Liquid Chromatography with fluorescence detector (Amino acid analyzers) and Multi-Mode Microplate reader (fluorescence, UV, etc).

Teaching

Our Faculty provide outstanding educational opportunities for medical students and graduate students who wish to pursue a career in the field of genetics. Graduate opportunities include PhD in Genetics and Genomic Medicine through the College of Medicine and Health Sciences Biomedical Sciences PhD program as well as fellowship training in Biochemical Genetics.

In addition, the department supports the Pediatric Residency Program and neonatology fellowship at SEHA facilities (Tawam, SKMC, and Corniche hospitals) through involvement in resident educational activities.

Clinical & Community Services

The Department of Genetics and Genomics encompasses leaders and experts in the field of Genomic Medicine and Counseling who are committed to providing exemplary clinical care. Through UAEU’s partnership with Tawam Hospital and other prestigious Centers across the UAE, our team delivers expert consultation to both inpatients and outpatients. Regular clinics include a General Genetics Clinic, a Metabolic Clinic and a Cancer Genetic Clinic.

The Faculty members of the Department of Genetics and Genomics also engage with community groups and other educational providers to provide information and support. In addition, we aim to establish a cohesive network of Genetic Health Professionals in the UAE to provide ground-breaking opportunities to network, learn and collaborate.

Academic Programs

Publications

Articles in Peer-reviewed Journals 

1. Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression,intellectual disability, and seizures. Am J Med Genet A. 2019 Oct;179(10):2138-2143. doi: 10.1002/ajmg.a.61288. Epub 2019 Jul 10. PubMed PMID: 31290619.
2. Tam A, AlDhaheri NS, Mysore K, Tessier ME, Goss J, Fernandez LA, D'Alessandro AM, Schwoerer JS, Rice GM, Elsea SH, Scaglia F. Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. Am J Med Genet A. 2019 Jun;179(6):1015-1019. doi: 10.1002/ajmg.a.61104. Epub 2019 Mar 12. PubMed PMID: 30864297.
3. Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 Sep 7:e969. doi: 10.1002/mgg3.969. [Epub ahead of print] PubMed PMID: 31493347.
4. Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR. A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. J Mol Neurosci. 2019 Aug 29. doi: 10.1007/s12031-019-01398-6. [Epub ahead of print] PubMed PMID: 31468281.
5. Abdelrahman HA, John A, Ali BR, Al-Gazali L. Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON. Mol Syndromol. 2019 May;10(3):171-176. doi: 10.1159/000497337. Epub 2019 Mar 6. PubMed PMID: 31191207; PubMed Central PMCID: PMC6528082.
6. Al-Mahayri ZN, Al Jaibeji HS, Saab Y, Soliman K, Al-Gazali L, Patrinos GP, Ali BR. VKORC1 variants as significant predictors of warfarin dose in Emiratis. Pharmgenomics Pers Med. 2019 Apr 17;12:47-57. doi: 10.2147/PGPM.S187350. eCollection 2019. PubMed PMID: 31114289; PubMed Central PMCID: PMC6489578.
7. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 25;11(1):16. doi: 10.1186/s13073-019-0630-1. PubMed PMID: 30909959; PubMed Central PMCID: PMC6434874.
8. Al-Dirbashi OY, Alfadhel M, Al-Thihli K, Al Dhahouri N, Langhans CD, Al Hammadi Z, Al-Shamsi A, Hertecant J, Okun JG, Hoffmann GF, Al-Jasmi F. Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism. Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9. PubMed PMID: 31451751; PubMed Central PMCID: PMC6710289.
9. Stratopoulos A, Kolliopoulou A, Karamperis K, John A, Kydonopoulou K, Esftathiou G, Sgourou A, Kourakli A, Vlachaki E, Chalkia P, Theodoridou S, Papadakis MN, Gerou S, Symeonidis A, Katsila T, Ali BR, Papachatzopoulou A, Patrinos GP. Genomic variants in members of the Krüppel-like factor gene family are associated with disease severity and hydroxyurea treatment efficacy in β-hemoglobinopathies patients. Pharmacogenomics. 2019 Jul;20(11):791-801. doi:10.2217/pgs-2019-0063. Epub 2019 Aug 8. PubMed PMID: 31393228.
10. Kolliopoulou A, Siamoglou S, John A, Sgourou A, Kourakli A, Symeonidis A, Vlachaki E, Chalkia P, Theodoridou S, Ali BR, Katsila T, Patrinos GP, Papachatzopoulou A. Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study. Hemoglobin. 2019 Jan;43(1):27-33. doi:10.1080/03630269.2019.1597732. Epub 2019 Apr 30. PubMed PMID: 31039620.
11. Fragoulakis V, Bartsakoulia M, Díaz-Villamarín X, Chalikiopoulou K, Kehagia K, Ramos JGS, Martínez-González LJ, Gkotsi M, Katrali E, Skoufas E, Vozikis A, John A, Ali BR, Wordsworth S, Dávila-Fajardo CL, Katsila T, Patrinos GP, Mitropoulou C. Cost-effectiveness analysis of pharmacogenomics-guided clopidogrel treatment in Spanish patients undergoing percutaneous coronary intervention.Pharmacogenomics J. 2019 Jan 16. doi: 10.1038/s41397-019-0069-1. [Epub ahead of print] PubMed PMID: 30647444.

Faculty

Note: If calling from outside the UAEU organization, dial (+971 3 713) before the extension.

Name	Position	Email	Extension
Prof. Fatma Al Jasmi	Professor and Chair	aljasmif@uaeu.ac.ae	7412
Prof. Bassam Ali	Professor	bassam.ali@uaeu.ac.ae	7470
Dr. Hiba AlBlooshi	Assistant Professor	hiba.alblooshi@uaeu.ac.ae	7547
Dr. Nadia Akawi	Assistant Professor	nadia.akawi@uaeu.ac.ae	7109
Dr. Noura Al Dhaheri	Assistant Professor	noura.aldhaheri@uaeu.ac.ae	7353
Dr Muna Al Saffar	Assistant Professor	munasaffar@uaeu.ac.ae	7597
Dr. Mushal Allam	Instructor	mushal.allam@uaeu.ac.ae	7448

Staff

Note: If calling from outside the UAEU organization, dial (+971 3 713) before the extension.

Name	Position	Email	Extension
Ms Alia Almehrzi	Medical Research Specialist	aliaalmehrzi@uaeu.ac.ae	7431
Ms. Fatema Al Shibli	Research Assistant	fatema.aalshibli@uaeu.ac.ae	7427
Dr. Ibrahim Baydoun	Senior Research Specialist	ibrahim.baydoun@uaeu.ac.ae	7449
Ms Latifa Alketbi	Medical Research Specialist	latifa_s@uaeu.ac.ae	7498
Dr. Praseetha Kizhakkedath	Senior Research Specialist	praseethak@uaeu.ac.ae	7650

General Enquiries

Thank you for your interest in the Department of Genetics & Genomics. We welcome your query and encourage you to contact us using the information below:

United Arab Emirates University,
College of Medicine and Health Sciences
P.O.Box: 17666, Al Ain, UAE
Phone: + 971 3 7137 488