New review: Genetic diseases of epigenetic machinery
The development of sequencing technologies and their increased accessibility in clinical services and genetic laboratories have considerably accelerated the identification of genetic variants associated with rare diseases. Among these, Mendelian disorders of the epigenetic machinery (MDEM) are rare monogenic diseases characterized by the presence of mutations in genes encoding epigenetic regulators that play a key role in organismal development and cellular functions. Loss of function of these regulators is expected to lead to epigenetic modifications that profoundly affect genome expression and cellular identity. The current challenge is to determine whether and how these epigenomic alterations drive the mechanisms underlying the clinical manifestations in patients suffering from this class of diseases.
Cover photo: Causes leading to modifications in individuals’ epigenome: presence of a pathogenic variant, aging, environmental factors. From “Genetic diseases of the epigenetic machinery”, Maud de Dieuleveult, Guillaume Velasco (page 914 of this issue) (© Biorender.com).
Call for new Research Group Leader
The CNRS is launching a call for applications for a Junior Professor Chair (Chaire de Professeur Junior, CPJ) entitled “Epigenetics of Cellular Fate (EpiDeC)”, hosted at our Centre. All details in this document.
Sophie Polo elected EMBO member
Honored to be part of this prestigious scientific community. Sophie Polo in her laboratory © Romain Redler / Art in research for the Fondation Bettencourt Schueller À lire aussi
New research article on the role of SETDB1 in regulating inflammation and fibrosis in Duchenne muscular dystrophy
In this paper, we show that SETDB1 regulates the TGFβ-induced secretome and identify EMILIN1, an extracellular matrix protein, as a novel player in this process. EMILIN1 is overexpressed in muscle biopsies from DMD patients and influences both myogenic differentiation...
Seminar Benoît MOINDROT –July 8, 2026
Dr. Benoît MOINDROT The Institute for Integrative Biology of the Cell (I2BC), University Paris-Saclay Invited by Dr. Dounia DJEGHLOUL "One Genome, Two Voices: Decoding allelic chromatin-regulatory layers, and their perturbations, at imprinted domains." The seminar...
Seminar Adam SATERIALE –June 17, 2026
Dr. Adam Sateriale The Francis Crick Institute, London, UK Invited by Jonathan Weitzman and Marisol Giacomini "Intestinal parasites and metabolic mysteries." The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Bâtiment Buffon, 15...
Seminar Michael Rera –June 3, 2026
Dr. Michael Rera Department of Functional and Adaptive Biology, Université Paris Cité, France Invited by Dr. Valerie Mezger "Studying ageing as a two-phase process." The hallmarks of aging framework, introduced over a decade ago and cited nearly 20,000 times, became...
Seminar Anne-Sophie Lebre– May 27, 2026
Pr. Anne-Sophie Lebre CHU de Reims - Hôpital Robert Debré, France Invited by Pr. Bertrand Cosson "Brain (epi)genome study in CNS rare disorders" The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Bâtiment Buffon, 15 rue Hélène Brion,...
Seminar Hiroshi Kimura– May 20, 2026
Dr. Hiroshi Kimura Institute of Quantitative Biosciences, University of Tokyo, Japan Invited by Dr. Pierre-Antoine Defossez "Dynamics of chromatin modification and transcription in vivo." The seminar is Zoom-only On Wednesday, May 20that 11:00 am....
Bing Zhu Seminar – May 6, 2026
Dr. Bing Zhu Institute of Biophysics, Chinese Academy of Sciences, Beijing, China Invited by Dr. Pierre-Antoine Defossez "Epigenetics: remember the past & prepare for the future." The seminar is Zoom-only On Wednesday, May 6that 11:00 am....
Harm H. Kampinga Seminar – April 15, 2026
Dr. Harm H. Kampinga Dept. Biomedical Sciences, UMCG/RuG, Groningen, The Netherlands Invited by Dr. Valérie Mezger "Collapse of protein homeostasis as driver of age-related protein aggregation diseases" The seminar will take place in the Institut Jacques Monod seminar...
Frédéric Frottin Seminar – April 8, 2026
Dr. Frédéric Frottin I2BC, Gif-sur-Yvette, France Invited by Dr. Valérie Mezger "The nucleolus as a hot spot in nuclear proteostasis - Molecular basis of the accumulation of misfolded proteins into the nucleolus" The seminar will take place in the...
Pint of Science 2026: Our unit takes Science to the public!
The Pint of Science festival returns from May 18 to 20, 2026. This year, members of our unit are once again deeply involved in bringing cutting-edge research out of the labs and into the relaxed atmosphere of Parisian bars. Featured Event: "DNA Damage, Cancer and...
Congratulations to the Defossez group for their review published in Médecine/Sciences
Congratulations to Matthieu, Raady and Pierre-antoine for their review "Demethylating DNA against cancer : towards new epigenetic therapeutic strategies without DNA damage" published in Médecine/Sciences in february 2026! Read here
New research article on histone chaperones with central functions in chromatin repair
In this paper, we identify new players in chromatin repair through a novel approach for the proteomic profiling of DNA repair patches in human cells. Thus, we expand the histone chaperone network involved in repair-coupled chromatin restoration and highlight a...
Dimitris Xirodimas Seminar – March 11, 2026
Dr. Dimitris Xirodimas CRBM-CNRS, Montpellier, France Invited by Dr. Valérie Mezger "Guardians of Proteostasis: Ubiquitin and Ubiquitin-like pathways in Protein Misfolding and Aggregation" The seminar will take place in the Institut Jacques Monod seminar room...
Laurent Duret Seminar – February 25, 2026
Dr. Laurent Duret Laboratoire de Biométrie et Biologie Évolutive, Lyon, France Invited by Pierre-Antoine Defossez (EDC) and Sandra Duharcourt (IJM) "Random genetic drift sets an upper limit on mRNA splicing accuracy in metazoans" The seminar will take place in the...
Minoru Yoshida Seminar – February 20, 2026
Pr. Minoru Yoshida Executive Vice-President of RIKEN, Leader of the Chemical Genomics Research GroupRIKEN Center for Sustainable Resource Science, Wako, Japan Invited by Dr. Pierre-Antoine Defossez "Tackling Genetic Diseases with Chemical Biology" The seminar will...
Fiona Francis Seminar – February 18, 2026
Dr. Fiona Francis NeuroSU, Paris,France Invited by Dr. Valérie Mezger "Progenitor cell mechanisms during cerebral cortical development" The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Bâtiment Buffon, 15 rue Hélène Brion, Paris 13th....
Pauline Spéder Seminar – February 4, 2026
Dr. Pauline Spéder Institut Pasteur, Paris, France Invited by Dr. Valérie Mezger "Under pressure: forces and resistance in the neurogenic niche" The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Bâtiment Buffon, 15 rue Hélène Brion,...
Laure Bally-Cuif Seminar – January 28, 2026
Dr. Laure Bally-Cuif Institut Pasteur and CNRS, Paris, France Invited by Dr. Valérie Mezger "Making sense of adult Neural Stem Cell heterogeneities" The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Bâtiment Buffon, 15 rue Hélène Brion,...