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).

Ana Bošković seminar – October 4, 2023

Ana Bošković seminar – October 4, 2023

Wednesday, October 4th, 2023, at 11:00 am Ana Bošković Epigenetics and Neurobiology unit, EMBL, RomeInvited by Juliette Dabin and Sophie Polo “Mechanisms of embryonic gene regulation” The seminar will take place in the Institut Jacques Monod seminar room (RB-18B)....

Yoichi Shinkai seminar – September 18, 2023

Yoichi Shinkai seminar – September 18, 2023

Monday, September 18, 2023, at 10:00 am Yoichi Shinkai RIKEN Saitama, JapanInvited by Pierre-Antoine Defossez “Histone modifications in genome regulation” The seminar will take place in the Buffon auditorium, Institut Jacques Monod. Buffon building, 15 rue Hélène...

Welcome Ariane !

Welcome Ariane !

Ariane is our new Postdoc. She will work on the host-parasite interactions project. Welcome in the team Ariane!   Read more

Welcome Charles !

Welcome Charles !

Charles is our new ATER (teaching Postdoc). He will work on the SMYD project and, will also be part of the teaching unit for cellular biology and physiology. Welcome in the team Charles!   Read more

Dounia Djeghloul seminar – September 6, 2023

Dounia Djeghloul seminar – September 6, 2023

Wednesday, September 6, 2023, at 11:00 am Dounia Djeghloul Department of Biochemistry, University of Oxford, Oxford, UKInvited by Claire Rougeulle “Impact of chromatin changes on mitotic chromosome structure and bookmarking” The seminar will take place on Zoom...

YRLS 2023 Congress

YRLS 2023 Congress

Jonathan Weitzman's lab was present at the YRLS 2023 conference held on the Pierre et Marie Curie campus (Sorbonne University) from 11 to 13 June 2023.On this occasion, Aristeidis Panagiotou (PhD) had the opportunity to present a Poster during the day "Today's...

EMBO-XCI meeting in Berlin

EMBO-XCI meeting in Berlin

Rougeulle lab gathering at the EMBO meeting “X-chromosome inactivation: New insights on its 60th anniversary” held in Berlin 19-22 June 2023.                                                                                                                          ...

Marie Curie postdoctoral fellowship

Marie Curie postdoctoral fellowship

June 8th 2023: Congratulations to Juliette Dabin for being awarded a postdoctoral fellowship as part of the Marie Skłodowska-Curie Actions of Horizon Europe to characterize epigenome establishment and maintenance of the inactive X chromosome in response to DNA...

Agathe Subtil seminar – June 7, 2023

Agathe Subtil seminar – June 7, 2023

Wednesday, June 7th, 2023, at 11:00 am Agathe Subtil CNRS UMR3691, Institut Pasteur, ParisInvited by Slimane Ait-Si-Ali and Sophie Polo “Imprint of Chlamydia infection on the metabolism and epigenome of epithelial host cells” The seminar will take place in the...

Maria Rostovskaya seminar – April 26, 2023

Maria Rostovskaya seminar – April 26, 2023

Wednesday, April 26th, 2023, at 11:00 am Maria Rostovskaya Babraham Institute, Cambridge, UKInvited by Claire Rougeulle “Molecular timetables of differentiation: making the right shape at the right time” The seminar will take place in the Institut Jacques Monod...

Guillaume Lamour seminar – April 19, 2023

Guillaume Lamour seminar – April 19, 2023

Wednesday, April 19th, 2023, at 11:00 am Guillaume Lamour Evry University, FranceInvited by Slimane Ait-Si-Ali “Nanomechanics of stiff and soft biomaterials by atomic force microscopy” The seminar will take place in the Institut Jacques Monod seminar room (RB-18B)....

Ines Drinnenberg seminar – April 5, 2023

Ines Drinnenberg seminar – April 5, 2023

Wednesday, April 5th, 2023, at 11:00 am Ines Drinnenberg Institut Curie, ParisInvited by Pierre-Antoine Defossez “Evolution of centromeres and chromosome segregation” The seminar will take place in the Institut Jacques Monod seminar room (RB-18B). Bâtiment Buffon, 15...