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, Paris 13th.

On Wednesday, May 27th at 11:00 am.

 

Zoom link for remote attendees:

https://u-paris.zoom.us/j/86114422072?pwd=VzJ0c2pxcHl4OWppekx3MldlM2Y4QT09

Meeting ID: 861 1442 2072

Secret code:  492809

 

Relevant publications from the speaker:

Rare IDH hotspot mutations in dysembryoplastic neuroepithelial tumors expand the spectrum of IDH-altered CNS tumors.

Raby M et al. Acta Neuropathologica. 2025.

doi: 10.1007/s00401-025-02959-3.”

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Lefebvre M et al. Journal of Medical Genetics. 2021

doi: 10.1136/jmedgenet-2020-107213.”

Nephronophthisis in young adults phenocopying thrombotic microangiopathy and severe nephrosclerosis.

Doreille A et al. Clinical Journal of the American Society of Nephrology. 2021 Dec;16(4):615–617.

doi: 10.2215/CJN.11890720.

Welcome to Léa

Welcome to Léa

Léa joins the team as a research assistant. After completing a master's degree in virology, she worked in Strasbourg on grapevine viruses, then on characterizing mRNA degradation in plants at the Institute of Plant Molecular Biology (IBMP). In the Polo team, Léa will...