Cybel Mehawej, PhD

Associate Professor
Co-Coordinator, Genetics Discipline
Department of Human Genetics

Dr. Cybel Mehawej earned her Ph.D. in Genetics from Paris Descartes University and from Saint-Joseph University (USJ) in 2013 (International Dual Degree Ph.D.). Afterwards, she completed her training in Immunogenetics at Boston Children’s Hospital, Harvard Medical School. In 2017, following her postdoctoral training, Dr Mehawej was recruited as Assistant Professor at the Faculty of Medicine at Saint-Joseph University (USJ) in Lebanon, where she contributed to the implementation of the newborn screening for severe combined immunodeficiency in Lebanon.

In 2020, Dr Mehawej joined the Gilbert and Rose-Marie Chagoury School of Medicine at the Lebanese American University as Assistant Professor and genetics discipline co-coordinator. At LAU, she contributed to the establishment of the Human Genetics department.

Dr. Mehawej has been remarkably interested in the linking of genes to new phenotypes and in elucidating the molecular mechanisms behind genetic diseases, with a particular focus on inborn errors of immunity. Recently, she contributed to the identification of a new gene involved in a severe form of syndromic combined immunodeficiency (POLD3 deficiency).

Dr. Mehawej has built a strong and focused scholarly record yielding to > 40 peer-reviewed journal articles. She presented her work in international scientific meetings and was the recipient of several awards including the “Excellence Award” from the “Franco-Lebanese Medical Association” in 2012, and the Resource-limited country award from the “American Society of Human Genetics” (ASHG 2023). In recognition of her efforts and the quality of her research, Dr Mehawej was recently selected under the L’Oréal-UNESCO For Women in Science Levant young talents program 2023.

Selected Publications

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Specialties in Molecular Biology, Molecular Diagnostics and Immunogenetics

Education and Training

B.S. in Biochemistry, Faculty of Sciences II, Lebanese University, Beirut, Lebanon, 2008
Research’s Masters Degree in Genomics and Health, Doctoral School of Sciences and Technologies, Lebanese University, 2010
Ph.D. in Genetics, Paris Descartes Univesrity (Paris V), France, and from Saint-Joseph University, Beirut, Lebanon (International Dual Degree), 2013
Postdoctoral Training in Immunogenetics, Laboratory of Dr. Raif Geha, Boston Children’s Hospital, Harvard Medical School, Boston, USA, 2015-2017

Professional Organizations, Memberships, Affiliations, and/or Honors

Prix d’Excellence de l’Association Médicale Franco-Libanaise, UNESCO, Paris, France, 2012.
Resource-limited country award from the “American Society of Human Genetics” (ASHG), Washington, USA, 2023.
L’Oréal-UNESCO For Women in Science Levant young talents grant, 2023.

Keywords

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