Heather C. Etchevers BA (Wellesley) Biology 1992; Ph.D. (U.C. Berkeley) Neurobiology 1998; Doctorat (U. Pierre et Marie Curie) Developmental Biology 1999

Course and current status

1999-2001       Postdoctoral fellow, Institut d'Embryologie Cellulaire et Moléculaire du CNRS et du Collège de France, Nogent-sur-Marne, France

2001-2004       Postdoctoral fellow, INSERM U393, Hôpital Necker – Enfants Malades, Paris, France

2002-2005       « Avenir » startup group leader INSERM U393 (U781 after 2004)

2004-2008      Chargée de recherche 2 (tenured research scientist), INSERM U781

2008-2010      Chargée de recherche 1 (senior tenured research scientist), INSERM U781

2010- 2018     Chargée de recherche 1, INSERM UMR_S910, Université Aix-Marseille II, Marseille, France

2012                Habilitation to direct research, Université Aix-Marseille II, Marseille, France

2018-               Chargée de recherche classe normale, Marseille Medical Genetics, INSERM U1251, Aix-Marseille Univ, Marseille, France

2018- 2022     Deputy director of CNRS national research network ("groupement de recherche"/GDR) 2031, CREST-NET: 35 member groups on the theme of neural crest cells

2021- 2025     Elected to Board of European Society for Pigment Cell Research

2022- 2027     Elected to INSERM's national advisory Commission Scientifique Spécialisée n°1, "Mécanismes cellulaires et moléculaires du dévelopment"

Scientific summary

I study the molecular bases of embryonic development and in particular, how one cell population, the neural crest (NC), makes an incredible variety of tissues around the body. Some of that potential to become pigment cells or neurons, cardiac valves or bone, is intrinsic to the NC cell – the instructions are preprogrammed. Some of the potential is also imposed by the environment in which the cells find themselves, be it spatial or temporal, or by the cells on that environment.

When NC cells develop wrongly, it leads to a class of diseases that are as varied in their symptoms as the derivatives of the neural crest. These include many common birth defects such as certain congenital heart malformations or cleft lip and palate; some very rare, sporadic malformations such as the large/giant congenital melanocytic nevus (CMN), certain vascular malformations, and endocrine anomalies.

I have studied the molecular bases of intrinsic and extrinsic cell fate decisions during NC development, in embryos of both humans and animal models, for over two decades. Since my Ph.D., I have closely followed the literature in the development of the melanocyte, a distinctive and late derivative of NC cells, and its niches in the skin, in parallel with my primary studies on the stem cell-like molecular properties of human NC cells and capacity to contribute structural components to blood vessels. I have participated in discovering and validating the implication of a number of genes in both heritable and sporadic congenital malformation syndromes. I bring this expertise to bear on the discovery of which genes are responsible for the development and physiology of large/giant CMN and certain classes of cardiovascular malformations.

The research that I supervise addresses the physiopathology of diseases caused by mutations in conserved transcription factors or signaling pathways involved in a number of developmental processes: the formation of the outflow tract of the heart, the ocular globe and anterior chamber, the pigmented cells of the skin and neural meninges, and the head. All of these share a common lineage in the NC cell, justifying continued study of its normal and pathological development in both humans and in animal models.

For more information, please see my group's webpage.

My bibliography can be viewed at ORCID and more about how the articles link to different projects at this link.

Some older review articles I have written have not made it to PubMed; all reprints are available on request by e-mail.

These include:

Etchevers HC, Vincent C, Couly GF (2001) Neural crest and pituitary development. In: Hypothalamic-Pituitary Development: Genetic and Clinical Aspects. R. Rappaport, ed. S. Karger AG, Basel, Switzerland, pp 13-29.

Etchevers HC (2003) Vasculo- and angiogenesis in the head and neck. Rivista di Neuroradiologia 16 : 735-8.

Etchevers HC, Amiel J, Lyonnet S (2006). Molecular bases of human neurocristopathies. In: Neural Crest Induction and Differentiation, ed. J.-P. Saint Jeannet. Landes Biosciences, Georgetown, TX, pp 213-227. ISBN: 1-58706-070-1 (also ISBN: 978-0-387-35136-0 - listed in PubMed as Adv Exp Med Biol. 2006 589:213-34.)

A couple of other chapters or reviews are also available for download at Figshare or bioRxiv, not yet in the official bibliography.

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