Biosketch

Stéphane Zaffran, PhD.
DR1 INSERM
Aix Marseille Université

Degrees :

• 1993 Master, Cell Biology, Aix Marseille University, France
• 1993-1997 PhD., Cell Biology, Aix Marseille University, France
• 2005 Habilitation (HDR), Biology, Paris 7 University, Paris, France

Personal Statement

I am a Research Director (DR1) at INSERM specializing in developmental biology and genetics, with a longstanding focus on the mechanisms underlying congenital heart defects (CHDs). Since 2008, my research has investigated how cardiac progenitor cell populations, particularly the second heart field and cardiac neural crest cells, contribute to normal and abnormal heart development. A major focus of our work has been to elucidate the role of retinoic acid (RA), a vitamin A derivative, in cardiac development and it function in coordinating pharyngeal and cardiac development through the regulation of intercellular signaling. Our research has progressively expanded to investigate how genetic and environmental factors interact to influence cardiac development. We study how biomechanical forces, such as shear stress, regulate gene expression during cardiac valve development, through interdisciplinary collaborations with biophysicists and clinicians. We have also established in vitro models based on embryonic stem cells and human induced pluripotent stem cells to investigate the functional consequences of candidate genes associated with CHDs. More recently, we have developed 3D gastruloid models bases on cellular self-organization to investigate the interactions between distinct cellular lineage during early cardiovascular development. Our research has further evolved toward the study of human heart development to better understand the cellular and molecular origins of CHDs. Using an integrated approach we have identified previously unrecognized cell populations and cellular states, including distinct subpopulation of cycling cardiomyocytes and anatomically defined stromal cell populations. Together these complementary approaches provide a comprehensive framework to investigate how genetic, signaling, cellular, and biomechanical mechanisms interact to control cardiac development and contribute to CHDs.

Appointments

• 1997-2001 Postdoctoral Research Fellow, The Mount Sinai School of Medicine, New York, NY, USA - Mentor Pr. M. Frasch
• 2001-2002 Postdoctoral Research Fellow, The Pasteur Institute, Paris, France Mentor - Pr. M. Buckingham
• 2002-2006 Researcher Fellow, CNRS CR1 Department of Developmental Biology, Pasteur Institute, Paris
• 2006-2008 Researcher Fellow, CNRS CR1 Institute of Developmental Biology of Marseille-Luminy, Marseille
• 2008-2009 Principal Investigator, CNRS CR1, Medical Genetics & Functional Genomics, Marseille
• 2009-2017 Principal Investigator, INSERM DR2, Medical Genetics & Functional Genomics, U910 Inserm, Marseille
• 2015-2017 Deputy Director, Medical Genetics & Functional Genomics, U910 Inserm, Marseille
• 2018-2023 Principal Investigator, INSERM DR2, Marseille Medical Genetics Center, U1251 Inserm, Marseille
• 2022-2026 Vice-chair, INSERM Evaluation Committee CSS2 "cancerology, genetic diseases"
• 2024-present Principal Investigator, INSERM DR1, Marseille Medical Genetics Center, U1251 Inserm, Marseille
• 2024-present Deputy Director, Marseille Medical Genetics Center

Publications PubMed

Publications from PubMed

Book Chapters and other Publications not listed in PubMed

Meilhac S, Zaffran S, Bernheim S, Mohun TJ, Brown NA, Anderson RH. (2025). Establishment of a double blood circulation in the developing mouse heart. In book: Kaufman's Atlas of Mouse Development Supplement. Second Edition. p125-144. Editors: Gillian Morriss-Kay, Shankar Srinivas. Academic Press.

Rochais, F, Kelly RG, Zaffran S. (2019). Développement et régénération cardiaque. Editors: GRRC (John Libbey Eurotext, France).

Zaffran S. (2018). Cardiac growth: Cardiomyocyte polarisation. In The ESC Textbook of cardiovascular development. Editors: JM. Perez-Pomares, R. Kelly, pp. 86-93. Oxford University Press, Oxford.

Zaffran S, Bajolle F. (2017). Genetics and developmental basis of the bicuspid aortic valve. Arch Mal Coeur Vaiss. 256:22-26.

Laforest B, Zaffran S. (2016). Genetics of conotruncal anomalies. In Surgery of conotruncal anomalies. Editors: F. Lacour-Gayet, T. Spray, E. Bove, V. Hraska, V Morrel, pp. 607-621. Springer International Publishing, Switzerland.

Zaffran S, Niederreither K. (2015). Retinoic acid signaling and heart development. In The Retinoids: Biology, Biochemistry, and Disease. Editors: P Dollée, K Niederreither, pp.353-369. Wiley-Blackwell, New Jersey, USA.

Zaffran S, El Robrini N, Bertrand N. (2014). Retinoids and Cardiac Development. J. Dev. Biol. 2, 50-71.

Laforest B, Bertrand N, Zaffran S. (2014). Anterior Hox Genes in Cardiac Development and Great Artery Patterning. J. Cardiovasc. Dev. Dis. 1, 3-13.

Ryckebusch L, Zaffran. (2009). Embryonic dysfunction and congenital heart diseases. Arch Mal Coeur Vaiss, 174(15), 28-32.

Bajolle F, Bertrand N, Zaffran S. (2007). Développement du système cardiovasculaire. Traité de cardiologie et des maladies cardiovasculaires. Editeurs: J-Y Artigou, J-J Monsuez, eds. (Paris, France, Masson).

Bonnet D, Bajolle F, Zaffran S. (2006). Mécanismes embryologiques et génétique des cardiopathies. Med Feot Ech Gyn, 68, 17-19.

Kelly R-G, Zaffran S, Buckingham M, Brown N. (2005). Fgf10 and the embryological origin of outflow tract myocardium. In Cardiovascular Development and Congenital Malformations, M. Artman, D. W. Benson, D. Strivastava, and M. Nakazawa, eds. (Oxford, UK, Blackwell Futura).

Lee H-H, Zaffran S, Frasch M. (2004). The development of the larva visceral musculature of Drosophila. In Muscle Development in Drosophila. H Sink, ed. (Georgetown, TX, USA, Landes Bioscience Collection).

Zaffran S. (2003). Early cardiac development in vertebrates and invertebrates. Proc Indian Natn Sci Acad B, Biol Sci 69, (5), 703-718.