Presentation
Maud De Dieuleveult, Chargée de Recherche
The regulation of genetic information is an essential mechanism for the survival of an organism. I have dedicated my research work to the study of the molecular mechanisms that govern genetic expression and the establishment of the epigenome in a healthy and pathological context, and more particularly now in the context of rare diseases.
Mini CV :
Since 2021 : Permanent researcher INSERM
2020-2021 : Project Manager Nomenclature maladies Rare, Banque Nationale des Données Maladies Rares, APHP, Paris BNDMR
2015-2020 : Post-doc @UMR7216 Epigenetics and cell fate and @Institut Cochin, Paris
2011-2014 : Post-doc @ULB, Free University of Brussels, Belgium
2006-2010 : Thesis, CEA Saclay, Gif-sur-Yvette PhD
Research projects :
- Epigenetics and growth disorders: A better epigenomic description and molecular understanding of rare growth pathologies to improve diagnosis for patients.
- iPS and rare diseases: A new dynamic tool to better understand the molecular mechanisms involved during the development of a rare growth pathology.
- Autoantibodies and autoimmune diseases: Use of existing data to improve the description and understanding of autoimmune diseases and associated clinical signs (MAKAAO Project: MApping elements of Knowledge about Autoimmune disease, Auto antibodies and other clinical signs).
Keywords :
Epigenetics, pluripotent stem cells, rare diseases, epigenomics, diagnosis, ChIP-seq, EPIC array, iPS cells.
Useful links :
Resources & publications
-
Journal (source)J. Invest. Dermatol.
A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.
-
Journal (source)Br. J. Dermatol.
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv...
-
Journal (source)Br. J. Dermatol.
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv...
-
Journal (source)J. Invest. Dermatol.
Mutations in PERP Cause Dominant and Recessive Keratoderma.
-
Journal (source)Mol Ther Nucleic Acids
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Usin...
-
Journal (source)Sci Transl Med
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dyst...
-
Journal (source)J. Invest. Dermatol.
Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Reces...
-
Journal (source)J. Am. Acad. Dermatol.
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase ...
-
Journal (source)J. Invest. Dermatol.
Selective Substrates and Inhibitors for Kallikrein-Related Peptidase 7 (KLK7)...
-
Journal (source)J. Invest. Dermatol.
Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fi...
-
Journal (source)J. Invest. Dermatol.
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bull...
-
Journal (source)PLoS Genet.
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.
-
Journal (source)J. Exp. Med.
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks...
-
Journal (source)J Allergy Clin Immunol
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α a...
-
Journal (source)Expert Opin Emerg Drugs
Emerging drugs for the treatment of epidermolysis bullosa.
-
Journal (source)J Invest Dermatol
Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermo...