Cybel Mehawej, PhD

Assistant Professor
Genetics Discipline Co-Coordinator
Department of Human Genetics

Dr. Cybel Mehawej obtained her Ph.D. in Genetics from Paris Descartes University and from Saint-Joseph University (USJ) in 2013 (International Dual Degree Ph.D.). Her doctoral work aimed to identify new genes involved in skeletal dysplasia. In 2015, Dr. Mehawej joined Dr Raif Geha’s laboratory at Boston Children’s Hospital, Harvard Medical School as a postdoctoral fellow, where she focused on the identification of the molecular bases of Primary Immunodeficiency Diseases (PIDs). During her Ph.D. and postdoctoral training, Dr Mehawej acquired skills in sophisticated molecular and functional genetics tools and techniques, including Next Generation Sequencing applications and analyses and the CRISPR-Cas9 technology. In July 2017, Dr. Mehawej was recruited as Assistant Professor at the Faculty of Medicine at USJ where she was in charge of teaching medical students in functional genetics and immunogenetics. She was also appointed Head of the functional genetics section at the Medical Genetics Unit at USJ. Dr Mehawej was in charge of the molecular diagnosis of patients with PIDs. Furthermore she contributed to the implementation of TREC-based neonatal screening for severe combined immunodeficiency diseases and T-cell lymphopenia conditions in Lebanon, in collaboration with the Ministry of Public Health, American University of Beirut Medical Center and the iFight PID fund. 
Dr Mehawej’s activities have led to the identification of several genes involved in orphan diseases. Her current research focuses on the elucidation of the molecular bases of genetic disorders, with a special focus on PIDs. She is author or co-author of 20 papers published in peer-reviewed journals. In addition she has participated in several international scientific meetings. Dr Mehawej has been the recipient of a number of fellowships and awards, and her work has been recognized by the “Franco-Lebanese Medical Association” which granted her an “Excellence Award” in 2012.

Selected Publications

  1. Wallace JG,  Alosaimi M, Djambas Khayat C, Jaber F, Almutairi A, Beaussant-Cohen S, Pinkus G, Fleming M, Mehawej C, Chou J, Geha RS. ITK deficiency presenting as autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol (2020 Jul) doi: 10.1016/j.jaci.2020.06.019. 
  2. Mehawej C, Djambas Khayat C, Hamdan N, Chouery E, Platt CD. A family history of SCID and unrevealing WES: An approach to management and guidance of patients, Clin. Immunol. (2020 Sep) 218:108520. doi: 10.1016/j.clim.2020.108520.   
  3. Hamdan N*, Mehawej C*, Sebaaly G, Jalkh N, Corbani S, Abou-Ghoch J, De Backer O, Chouery E. A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. Clin. Genet. (2020 Sep) 98(3):288-292. doi: 10.1111/cge.13799. *Equal contribution.
  4. Mehawej C*, Khalife H, Hanna-Wakim R, Dbaibo G, Farra C. DNMT3B deficiency presenting as severe combined immune deficiency: A case report. Clin. Immunol. (2020 Jun) 215:108453. https://doi.org/10.1016/j.clim.2020.108453. *Corresponding author.   
  5. Haidar Z, Jalkh N, Corbani S, Abou-Ghoch J, Fawaz A, Mehawej C* Chouery E*. A homozygous splicing mutation in PDE2A in a family with Atypical Rett Syndrome. Mov. Disord. (2020) 35:896–899. https://doi.org/10.1002/mds.28023. *Equal contribution.
  6. Jalkh N, Mehawej C, Chouery E. Actionable exomic secondary findings in 280 Lebanese participants. Front Genet. (2020 Mar) 11:208. https://doi.org/10.3389/fgene.2020.00208.
  7. Jalkh N, Corbani S, Haidar Z, Hamdan N, Farah E, Abou Ghoch J, Ghosn R, Salem N, Fawaz A, Djambas Khayat C, Rajab M, Mourani C,  Moukarzel A, Rassi S, Gerbaka B, Mansour H, Baassiri M, Dagher R, Breich D, Mégarbané A, Desvignes JP, Delague V, Mehawej C, Chouery E. The added value of WES reanalysis in the field of genetic diagnosis: Lessons learned from 200 exomes in the Lebanese population. BMC Med Genomics. (2019 Jan) 12:11. https://doi.org/10.1186/s12920-019-0474-y.
  8. Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A. Homozygous mutation in ELMO2 may cause Ramon Syndrome. Clin. Genet. (2018) 93:703–706. https://doi.org/10.1111/cge.13166.
  9. Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N,  Desvignes J-P, Kibar Z, Capo-Chichi J-M, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A, The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia, PLoS Genet. (2014 May) 10(5):e1004311. https://doi.org/10.1371/journal.pgen.1004311.
  10. Mehawej C, Courcet J-B, Baujat G, Mouy R, Gérard M, Landru I, Gosselin M, Koehrer P,Mousson C, Breton S, Quartier P, Le Merrer M, Faivre L, Cormier-Daire V. The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. Am. J. Med. Genet. A. (2013 Dec) 161A(12):3023-3029. https://doi.org/10.1002/ajmg.a.36151.
View Dr. Mehawej’s publications on Pubmed.

Professional and Research Interests

Education and Training

Professional Organizations, Memberships, Affiliations, and/or Honors:


Human genetics, molecular biology, molecular diagnosis, functional genetics, next-generation sequencing, primary immunodeficiency diseases, orphan diseases, skeletal dysplasia, gene identification, genotyping/sequencing/linkage analysis