Fr | Ar

Prof. Marianne ABI FADEL

School of Medical Lab Technicians
Faculty of Pharmacy
Rodolphe Mérieux Laboratory – Lebanon

Professor
Dean Of The Faculty Of Pharmacy

(+961) 1 421 000 ext marianne.abifadel@usj.edu.lb

Marianne Abi Fadel is the elected Dean of the School of Pharmacy at USJ since 2013, the director of the laboratory of Biochemistry Molecular Therapeutics (LBTM) at the School of Pharmacy, a professor of biochemistry molecular biology at USJ. She is also an invited researcher at INSERM U1148 at Bichat hospital Paris Cité University in Paris, the director of the Laboratory Rodolphe Mérieux in Lebanon since 2018 providing diagnosis to migrants vulnerable populations.She obtained her Pharmacy Diploma in 1996, her Laboratory Medicine Clinical Biochemistry Specialization Diploma from USJ, then her PhD in Molecular Genetics in 2003 the French accreditation to supervise research in 2009 from the University of Paris-Descartes. Her main scientific achievement is the discovery of the implication of PCSK9 in Familial Hypercholesterolemia by identifying its first gain of function (GOF) mutations (Abifadel et al. Nature Genetics 2003). This was the seminal paper linking PCSK9 to cholesterol metabolism was the starting point of the PCSK9 adventure from gene to a new therapeutic class: the anti-PCSK9.With several publications in journals with high impact factor (ex: 3 in Nature Genetics IF41, 3 in The Lancet IF168…), she was awarded several national international distinctions for her work on Familial Hypercholesterolemia FH notably: - The Chancellery of Paris Universities: Nathalie Demassieux prize in 2004,- the CNRS-L (National Council for Scientific Research, Lebanon) Award in Recognition of Distinguished Scientific Researchers in 2012, - the ‘Société des Membres de la Légion d’honneur’ Scientific Excellence Award in 2016, - the prestigious Christophe Mérieux Prize 2021 from the “Institute de France” in Paris - the Golden Award of the Italian Society of Atherosclerosis in 2022. She is a Principal Investigator of several working groups, invited speaker in international scientific meetings member of advisory boards. She is an elected member in the National French Academy of Pharmacy as international correspondent since 2019 honored with the Medal of the French National Academy of Pharmacy, National Lead of Lebanon at EAS-FHSC Member of the International Society of Atherosclerosis representing MENA region, member of the Saint Joseph University of Beirut HDF hospital government boards.


DegreesUniversityCountryYear
HDR - Biochemistry, Cell and Molecular BiologyUniversité René Descartes(Paris V)France2009
Doctorate in Molecular Genetics of Developmental Diseases and OncogenesisUniversité René Descartes(Paris V)France2003
Diploma of Specialized Studies in Biological MedicineSaint Joseph University of BeirutLebanon1999
D.E.A - Physiology and Physiopathology of Human NutritionUniversité Paris 7- Denis DiderotFrance1999
University DoctorateSaint Joseph University of BeirutLebanon1998
Master 1 in Biological and Medical SciencesSaint Joseph University of BeirutLebanon1998
Doctor of Pharmacy (Practicing Doctorate)Saint Joseph University of BeirutLebanon1996

Metabolic BiochemistrydivClinical Biochemistry/div>

 Molecular Biology
Medical Biotechnology
Genomics

Experience in University Teaching Outside USJCountryInstitutionStart DateEnd Date
Visiting ProfessorFranceInstitut National de la Santé et de la Recherche Médicale
Visiting ProfessorFranceUniversité René Descartes

Professional ExperienceOrganizationStart dateEnd date
National lead investigator of the FHSC, • Familial Hypercholesterolemia Steering Committee, European Atherosclerosis Society.10/06/201710/11/2024
Senior Expert 10/06/201626/10/2018

Medecine and Health

Her research focuses on PCSK9, the genetics of Familial Hypercholesterolemia (FH), dyslipidemia, aneurysms, cardiovascular metabolic diseases in Lebanon (LBTM in collaboration with Hotel Dieu de France (HDF) hospital), in the Middle East in the French population at INSERM U1148, Bichat Hospital. She works in collaboration with INSERM U1148 team in Paris, as well as other international teams at IRCM Montreal, Karolinska Institute, the FHSC/EAS, collaborators in the MENA region. Besides her discovery of i>PCSK9 in FH, she has also identified the implication of THSD4 in thoracic aortic aneurysm, studied PCSK9 as a modifier gene in FH Lebanese patients carrying the same mutation of the LDLR, identified PCSK9 mutation in familial combined hyperlipidemia, studied Tangier disease, hypobetalipoproteinemia, hypertriglyceridemia other rare metabolic cardiovascular diseases in patients from Lebanon the Middle East. She works on improving the diagnosis of non-communicable diseases but also of communicable infectious diseases (COVID19, tuberculosis…) in collaboration with the Mérieux Foundation Gabriel Network

https://pubmed.ncbi.nlm.nih.gov/?termabifadel+marianne&sortdate&size200

https://scholar.google.com/citations?userU_Mc1IEAAAAJ&hlfr

1. Dharmayat K, Vallejo-Vaz A, Stevens C, Brandts J, Lyons A, Groselj U, Abifadel M, + 476 co-authors, Santos R, Ray K., Familial hypercholesterolaemia in children adolescents from 48 countries: a cross-sectional study Lancet. 2024 Jan 6403(10421):55-66.

2. Yaghi N, El Hayeck R, Boulos C, Abifadel M, Yaghi C. Effect of Mediterranean Dietary Pattern on Cognitive Status in Community-Dwelling Older Adults. Nutrients. 2023 Sep 815(18):3911.

3. Guillas I, Lhomme M, Pionneau C, Matheron L, Ponnaiah M, Galier S, Lebreton S, Delbos M, Ma F, Darabi M, Khoury PE, Abifadel M, Couvert P, Giral P, Lesnik P, Guerin M, Le Goff W, Kontush A. Identification of the specific molecular functional signatures of pre-beta-HDL: relevance to cardiovascular disease. Basic Res Cardiol. 2023 Aug 28118(1):33.

4. Bedlington N, Abifadel M, Beger B, Bourbon M, Bueno H, Ceska R, Cillíková K, Cimická Z, Daccord M, de Beaufort C, Dharmayat KI, Ference BA, Freiberger T, Geanta M, Gidding SS, Grošelj U, Halle M, Johnson N, Novakovic T, Májek O, Pallidis A, Peretti N, Pinto FJ, Ray KK, Rees B, Reeve J, Reiner Ž, Santos RD, Schunkert H, Šikonja J, Sokolovic M, Tokgözoglu L, Vrablík M, Wiegman A, Gutiérrez-Ibarluzea I. The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration. GMS Health Innov Technol. 2022 Sep 30;16:Doc04.

5. Abifadel M, Boileau C. Genetic molecular architecture of familial hypercholesterolemia. J Intern Med. 2023 Feb;293(2):144-165.

6. Ayoub C, Azar Y, Maddah D, Ghaleb Y, Elbitar S, Abou-Khalil Y, Jambart S, Varret M, Boileau C, El Khoury P, Abifadel M. Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon. Front Genet. 2022 Aug 19;13:961028.

7. Gannagé-Yared MH, Naous E, Al Achkar A, Issa W, Sleilaty G, Barakett-Hamade V, Abifadel M. Lipid Parameters Proprotein Convertase Subtilisin/Kexin Type 9 in Healthy Lebanese Adults. Metabolites. 2022 Jul 26;12(8):690.

8. Azar Y, Gannagé-Yared MH, Naous E, Ayoub C, Abou Khalil Y, Chahine E, Elbitar S, Ghaleb Y, Boileau C, Varret M, El Khoury P, Abifadel M. Circulating PCSK9 Linked to Dyslipidemia in Lebanese Schoolchildren. Metabolites. 2022 May 31;12(6):504.

9. Yaghi N, Boulos C, Baddoura R, Abifadel M, Yaghi C. Validity reliability of a food frequency questionnaire for community dwelling older adults in a Mediterranean country: Lebanon. Nutr J. 2022 Jun 18;21(1):40.

10. Abou Khalil Y, Marmontel O, Ferrières J, Paillard F, Yelnik C, Carreau V, Charrière S, Bruckert E, Gallo A, Giral P, Philippi A, Bluteau O, Boileau C, Abifadel M, Di-Filippo M, Carrié A, Rabès JP, Varret M. APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. Int J Mol Sci. 2022 May 21;23(10):5792.

11. Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charrière S, Farnier M, Yelnick C, Carreau V, Ferrières J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lütjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabès JP, Boileau C, Abifadel M, Varret M. Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia. Metabolites. 2022 Mar 18;12(3):262.

12. Abifadel MS, Rabès JH, Boileau CR Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, Diagnosis. JACC Basic Transl Sci. 2021 Nov 22;6(11):831-833.

13. Ayoub C, Azar Y, Abou-Khalil Y, Ghaleb Y, Elbitar S, Halaby G, Jambart S, Gannagé-Yared MH, Yaghi C, Saade Riachy C, El Khoury R, Rabès JP, Varret M, Boileau C, El Khoury P, Abifadel M. Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families. Metabolites. 2021 Aug 24;11(9):564.

14. Antonio J Vallejo-Vaz, 10 co-authors, Abifadel M, 710 co-authors, Lale Tokgozoglu, Alberico L Catapano, Kausik K Ray Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. 2021 Nov 6;398(10312):1713-1725.

15. Yaghi N, Yaghi C, Abifadel M, Boulos C, Feart C. Dietary Patterns Risk Factors of Frailty in Lebanese Older Adults. Nutrients. 2021 Jun 25;13(7):2188.

16. Ma F, Darabi M, Lhomme M, Tubeuf E, Canicio A, Brerault J, Medadje N, Rached F, Lebreton S, Frisdal E, Brites F, Serrano C, Santos R, Gautier E, Huby T, El Khoury P, Carrié A, Abifadel M, Bruckert E, Guerin M, Couvert P, Giral P, Lesnik P, Le Goff W, Guillas I, Kontush A Phospholipid transfer to high-density lipoprotein (HDL) upon triglyceride lipolysis is directly correlated with HDL-cholesterol levels is not associated with cardiovascular risk. Atherosclerosis. 2021 May; 324:1-8.

17. Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm Genet Med. 2021 Jan;23(1):111-122. 18. El Khoury P, Couvert P, Elbitar S, Ghaleb Y, Abou-Khalil Y, Azar Y, Ayoub C, Superville A, Guérin M, Rabès JP, Varret M, Boileau C, Jambart S, Giral P, Carrié A, Le Goff W, Abifadel M. Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1. J Clin Lipidol. 2018 Nov-Dec;12(6):1374-1382.

19. EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, 11 co-authors, Abifadel M, 70 co-authors, Ray KK; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Atherosclerosis. 2018 Oct;277:234-255

20. Extramiana F, Milleron O, Elbitar S, Uccellini A, Langeois M, Spentchian M, Delorme G, Arnoult F, Denjoy I, Bouleti C, Fressart V, Iserin F, Maison-Blanche P, Abifadel M, Leenhardt A, Boileau C, Jondeau G. High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations. Sci Rep. 2018 Aug 29;8(1):13019.

21. Elbitar S, Susan-Resiga D, Ghaleb Y, El Khoury P, Peloso G, Stitziel N, Rabès JP, Carreau V, Hamelin J, Ben-Djoudi-Ouadda A, Bruckert E, Boileau C, Seidah NG, Varret M, Abifadel M. New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia. Sci Rep. 2018 Jan 31;8(1):1943.

22. Ghaleb Y, Elbitar S, El Khoury P, Bruckert E, Carreau V, Carrié A, Moulin P, Di-Filippo M, Charriere S, Iliozer H, Farnier M, Luc G, Rabès JP, Boileau C, Abifadel M, Varret M. Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? Eur J Hum Genet. 2018 Apr;26(4):570-578.

23. El Khoury P, Roussel R, Fumeron F, Abou-Khalil Y, Velho G, Mohammedi K, Jacob MP, Steg PG, Potier L, Ghaleb Y, Elbitar S, Ragot S, Andreata F, Caligiuri G, Hadjadj S, Boileau C, Marre M, Abifadel M, Varret M, Hansel B. Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes. Diabetes Obes Metab. 2018 Apr;20(4):943-953

24. El Khoury P, Elbitar S, Ghaleb Y, Khalil YA, Varret M, Boileau C, Abifadel M. PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies Curr Atheroscler Rep. 2017 Oct 17;19(12):49.

25. EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P, Descamps O, Dieplinger H, Do CT, Durst R, Ezhov MV, Fras Z, Gaita D, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Lin N, Maher V, Majano N, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Ž, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widén E, Yamashita S, Catapano AL, Ray KK. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl. 2016 Dec;22:1-32.

26. Seidah NG, Abifadel M, Prost S, Boileau C, Prat A. The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9. Pharmacol Rev. 2017 Jan;69(1):33-52.

27. Al Rasadi K, Almahmeed W, AlHabib KF, Abifadel M, Farhan HA, AlSifri S, Jambart S, Zubaid M, Awan Z, Al-Waili K, Barter P. Dyslipidaemia in the Middle East: Current status and a call for action. Atherosclerosis. 2016 Sep;252:182-7.

28. Elbitar S, Khoury PE, Ghaleb Y, Rabès JP, Varret M, Seidah NG, Boileau C, Abifadel M. Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015). Expert Opin Ther Pat. 2016 Dec;26(12):1377-1392.

29. Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, SAFE_USJ_Du Y, Hamon S, Krempf M, Swergold GD. Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody Circulation, Cardiovascular Genetics. 2015 Dec;8(6):823-31.

30. Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, ODonoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widén E, Catapano AL, Ray KK. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov;243(1):257-9.

31. Abifadel M, Ghaleb Y, Elbitar S, El Khoury P, Rabès JP, Varret M, Boileau C. Les anti-PCSK9 dans la maladie coronarienne : progrès génétiques, pistes thérapeutiques. La Revue SAFE_USJ_du praticien, 2015; 65(3):326-7.

32. Stitziel NO, Peloso GM, Abifadel M, Cefalù AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, NHLBI Grand Opportunity Exome Sequencing Project Family Studies Project Team, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S. Exome Sequencing in Suspected Monogenic Dyslipidemias. Circulation, Cardiovascular Genetics. 2015 Apr;8(2):343-50.

33. Aderayo Bamimore M, Zaid A, Banerjee Y, Al-Sarraf A, Abifadel M, Seidah N, Al-Waili K, Al-Rasadi K, Awan Z. Familial Hypercholesterolemia Mutations in the Middle East and North Africa Region: A Need For A National Registry. Journal of Clinical Lipidology, 2015 Mar-Apr;9(2):187-194

34. Abifadel M, Ghaleb Y, Elbitar S, El Khoury P., M. Varret, C. Boileau L’aventure de PCSK9 La Lettre SAFE_USJ_du Cardiologue. N°495 – mai 2016

35. Raal FJ, Honarpour N, Blom DJ, Hovingh GK, Xu F, Scott R, Wasserman SM, Stein EA; TESLA Investigators/ Collaborators : Descamps O, Gaudet D, Blaha V, Soska V, Zemek S, Bruckert E, Farnier M, Sampietro T, Jambart S, Abi-Fadel M, Hovingh GK, Blom D, Raal F, Fuentes Jimenez F, Karlezi RA, Vidal Pardo JI, Ginsberg H, Stein E, Turner T, Hennekens CH, Andreotti F, Baigent C, Brown WV, Davis B, Wiviott SD. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet. 2015 Jan 24;385(9965):341-50.

36. Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Mileron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz D, Jondeau G, Boileau C. MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections. The American Journal of Human Genetics, 2014; 95(6).

37. Slimani A, Hrira MY, Najah M, Jomaa W, Maatouk F, Ben Hamda K, Abifadel M, RabEs JP, Boileau C, Rouis M, Slimane MN, Varret M. PCSK9 polymorphism in a Tunisian cohort: Identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk. Molecular and Cellular Probes, 2014; 29(1)

38. Abifadel M, Elbitar S, El Khoury P, Ghaleb Y, Chémaly M, Moussalli ML, Rabès JP, Varret M, Boileau C. Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs. Current Atherosclerosis Reports, 2014 Sep;16(9):439

39. Pakradouni J, Le Goff W, Calmel C, Antoine B, Villard E, Frisdal E, Abifadel M, Tordjman J, Poitou C, Bonnefont-Rousselot D, Bittar R, Bruckert E, Clément K, Fève B, Martinerie C, Guérin M. Plasma NOV/CCN3 levels are closely associated with obesity in patients with metabolic disorders. PLoS One, 2013 13;8(6)

40. Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques, Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP; French Research Network on ADH, Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. Human Mutation, 2013 Jan; 34(1):83-7.

41. Jelassi A, Slimani A, Rabès JP, Jguirim I, Abifadel M, Boileau C, Najah M, Mrabet S, Mzid J, Slimane MN, Varret M. Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia. Clinica Chimica Acta, 2012 Dec 24;414:146-51.

42. Abifadel M, Guérin M, Benjannet S, Rabès JP, Le Goff W, Julia Z, Hamelin J, Carreau V, Varret M, Bruckert E, Tosolini L, Meilhac O, Couvert P, Bonnefont-Rousselot D, Chapman J, Carrié A, Michel JB, Prat A, Seidah NG, Boileau C. Identification and characterization of new Gain of function mutations in the PCSK9 gene responsible for Autosomal Dominant Hypercholesterolemia. Atherosclerosis, 2012 Aug;223(2):394-400

43. Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, dIndy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nature Genetics, 2012 Jul 8;44(8):916-21.

44. Slimani A, Jelassi A, Jguirim I, Najah M, Rebhi L, Omezzine A, Maatouk F, Hamda KB, Kacem M, Rabès JP, Abifadel M, Boileau C, Rouis M, Slimane MN, Varret M. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients. Atherosclerosis, 2012 May;222(1):158-66.

45. Essalmani R, Susan-Resiga D, Chamberland A, Abifadel M, Creemers JW, Boileau C, Seidah NG, Prat A. In vivo evidence that furin from hepatocytes inactivates PCSK9. The Journal of Biological Chemistry, 2011 Feb 11; 286(6):4257-63.

46. Georges A, Bonneau J, Bonnefont-Rousselot D, Champigneulle J, Rabes Jp, Abifadel M, Aparicio T, Guenedet Jc, Bruckert E, Boileau C, Morali A, Varret M, Aggerbeck Lp, Samson-Bouma Me. Molecular analysis and intestinal expression of SAR1 genes and proteins in Andersons disease (Chylomicron retention disease). Orphanet J Rare Dis. 2011 Jan 14;6:1.

47. Marques-Pinheiro A, Marduel M, Rabès Jp, Devillers M, Villeger L, Allard D, Weissenbach J, Guérin M, Zair Y, Erlich D, Junien C, Munnich A, Krempf M, Abifadel M, Jaïs Jp, The French Research Network On Adh, Boileau C, Varret M. A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. European Journal of Human Genetics, 2010; 18(11) :1236-42.

48. Abifadel M, Pakradouni J, Collin M, Samson-Bouma Me, Varret M, Rabès Jp, Boileau C. Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents. Expert Opin Ther Pat. 2010 Nov;20(11):1547-71.

49. Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French Adh Research Network, Boileau C, Varret M, Rabès Jp. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat. 2010 Nov;31(11):E1811-24.

50. Marques- Pinheiro A, Levasseur R, Cormier C, Bonneau J, Boileau C, Varret M, Abifadel M, Allanore Y. Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. Joint Bone Spine. 2010;77(2):151-3.

51. Abifadel M, Rabès Jp, Jambart S, Halaby G, Gannage-Yared Mh, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydenian H, Junien C, Munnich A, Boileau C. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. Hum Mutat. 2009;30(7):E682-91.

52. Abifadel M, Rabès JP, Devillers M, Munnich A, Erlich D, Junien C, Varret M, Boileau C. Mutations and polymorphisms in the Proprotein Convertase Subtilisin Kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat. 2009;30(4):520-9.

53. Abifadel M, Bernier L, Dubuc G, Nuel G, Rabès JP, Bonneau J, Marques A, Marduel M, Devillers M, Munnich A, Erlich D, Varret M, Roy M, Davignon J, Boileau C. A PCSK9 variant and familial combined hyperlipidemia J Med Genet. 2008;45(12):780-6.

54. Varret M, Abifadel M, Rabès Jp, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clinical Genetics 2008;73(1):1-13.

55. Abifadel M, Rabès JP, Boileau C, Varret M. Après le récepteur des LDL et l’apolipoprotéine B, l’hypercholestérolémie autosomique dominante révèle son 3ème protagoniste : PCSK9 Annales Endocrinologie (Paris). 2007;68(2-3):138-46.

56. Abifadel M, Rabès JP, Boileau C, Varret M. PCSK9, SAFE_USJ_du gène à la protéine : un nouvel acteur impliqué dans lhoméostasie SAFE_USJ_du cholestérol. Médecine Sciences (Paris). 2006;22(11):916-8.

57. Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M, Reznik Y, Girardet Jp, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P, Rabes JP. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Human Mutation, 2005; 26(5):497.

58. Allard D, Abifadel M, Rabes JP, Varret M. Genetic heterogeneity of Autosomal Dominant Hypercholesterolemia : PCSK9, a third gene involved in the disease. Research Trends, 2005.

59. Allard D, Abifadel M, Rabes JP, Varret M. PC9, a new actor in Autosomal Dominant Current Genomics 2005, 6 (7):535-543.

60. Benjannet S, Rhainds D, Essalmani R, Mayne J, Wickham L, Jin W, Asselin Mc, Hamelin J, Varret M, Allard D, Trillard M, Abifadel M, Tebon A, Attie Ad, Rader Dj, Boileau C, Brissette L, Chretien M, Prat A, Seidah Ng. NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. Journal of Biological Chemistry, 2004, 279(47) : 48865-48875.

61. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y,Niikawa N, Boileau C, Matsumoto N. Heterozygous TGFBR2 mutations in Marfan syndrome. Nature Genetics, 2004, 36(8) : 855-860.

62. Ouguerram K, Chetiveaux M, Zair Y, Costet P, Abifadel M, Varret M, Boileau C, Magot T, Krempf M. Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. Arteriosclerosis Thrombosis Vascular Biology, 2004, 24(8) : 1448-1453.

63. Abifadel M, Jambart S, Rabes J-P, Varret M, Allard D, Derre A, Choueiry E, Salem N, Junien C, Aydenian H, Boileau C. Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method. Clinical Genetics, 2004:65:158-161.

64. Abifadel M, Varret M, Rabes Jp, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf Jm, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah Ng, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nature Genetics, 2003, 34(2):154-156. PUBLICATION LA PLUS IMPORTANTE CITEE PLUS DE 3500 FOIS

65. Villeger L, Abifadel M, Allard D, Rabes J-P, Thiart R, Kotze M, Beroud C, Junien C, Boileau C, Varret M. The UMD-LDLR database: Additions to the software and 490 new entries to the database. Human Mutation, 2002, 20:81-87.

66. Aydenian H, Fadel MA, Baddoura R. Etude épidémiologique des hyperlipidémies dans une population libanaise. Annales Biologie Clinique,1999, 57 :697-703

• Golden Award 2022 de la Société Italienne d'athérosclérose
• Grand Prix Scientifique Christophe Mérieux de l'Institut de France 2021
• Prix d'excellence scientifique franco-libanais
• Prix du CNRS libanais en reconnaissance de l’excellence scientifique. Beyrouth
• Prix de thèse de la Chancellerie des Universités de Paris : Prix de thèse de Sciences Nathalie Demassieux remis dans les Grands Salons de la Sorbonne le 9 Décembre 2004 ; pour la découverte du 3ème gène de l’hypercholestérolémie familiale : PCSK9

- Membre de la Société Européenne d’Athérosclérose EAS Investigateur Principal représentant le Liban

- Membre de l’Ordre des Pharmaciens du Liban et du Syndicat des biologistes au Liban

- Membre de la Conférence Internationale des Doyens des Facultés de Pharmacie d’Expression Française

- Membre du Comité exécutif de l’Association Scientifique des Facultés de pharmacie du Monde Arabe

- Membre du Réseau GABRIEL regroupant les Laboratoires Rodolphe Mérieux dans le Monde

- Membre de l’Académie Nationale française de Pharmacie – A titre étranger.

- Membre de l’EAS-FHSC (Société Européenne d’Athérosclérose, Steering Committee), Investigateur principal représentant le Liban.

- Membre de l’IAS-MENA region (Société Internationale d’Athérosclérose), représentant le Liban.