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).

Congratulations Dr. Aurélie Richard

Congratulations Dr. Aurélie Richard

Congratulations to Dr. Aurélie Richard, who spent four and a half years in the team during her second year of a master's degree and her PhD.Aurélie has worked very hard over all these years and deserves her new PhD title, earned after her thesis defense on November...

Thomas Graf seminar – December 4, 2023

Thomas Graf seminar – December 4, 2023

Monday, December 4, 2023, at 10:00 am Thomas Graf CRG, BarcelonaInvited by Pierre-Antoine Defossez “Mechanisms of cell fate conversions” The seminar will take place on Zoom only:https://u-paris.zoom.us/j/86114422072?pwd=VzJ0c2pxcHl4OWppekx3MldlM2Y4QT09 Contact:...

Yoichi Shinkai seminar – November 22, 2023

Yoichi Shinkai seminar – November 22, 2023

Wednesday, November 22, 2023, at 11:00 am Yoichi Shinkai RIKEN Saitama, JapanInvited by Pierre-Antoine Defossez “Lysine methyltransferase EHMT1/GLP (Ehmt1) heterozygous KO mice as a Kleefstra syndrome model: challenging the onset mechanism and developing therapeutic...

We celebrated Science in October

We celebrated Science in October

Every October, we celebrate science through the "Fête de la Science", a popular public event that celebrates science, technology and innovation. It is open to all and helps promote the sharing of knowledge. This year, our Centre was involved in two visits. Our...

Jacques Côté seminar – October 17, 2023

Jacques Côté seminar – October 17, 2023

Tuesday, October 17th, 2023, at 11:00 am Jacques Côté CHU de Québec/Université Laval, CanadaInvited by Sophie Polo and Claire Rougeulle “MYST-family chromatin modifying complexes in genome expression/stability and disease” The seminar will take place in the Institut...

Welcome to the team !

Welcome to the team !

Today we are welcoming three new members in the team. From left to right : Camille (PhD student), Marisol (PhD student) and Julia (engineer). Camille will work on the SMYD project while Marisol and Julia will work on the host-parasite interactions project. Read more

New pre-print about ZBTB24

New pre-print about ZBTB24

Congratulations on the new work "ZBTB24 is a conserved multifaceted transcription factor at genes and centromeres that governs the DNA methylation state and expression of satellite repeats" by Grillo et al. shared on bioRxiv.   Read here:...

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.                                                                                                                          ...