Marianne Lemée is finalist for the Charles J. Epstein Award for Excellence in Human Genetics Research

Prix et distinctions |

Marianne Lemée is one of the 18 finalists for the Charles J. Epstein Prize for Excellence in Human Genetics Research. The first French candidate to be selected since 2010, the doctoral student from the team of Christelle Golzio, Inserm researcher, will defend her research project on October 25 at the Convention Center in Los Angeles. This prestigious prize rewards promising research by doctoral and post-doctoral students from around the world.

A prestigious award which recognizes promising research in the field of human genetics

Coordinated by the American Society of Human Genetics (ASHG), the Charles Epstein Award for Excellence in Human Genetics Research recognizes particularly promising projects conducted by doctoral and post-doctoral students. A total of 18 finalists are selected each year, 9 PhD students and 9 post-doctoral fellows, with 3 winners in each category.

This prize is a sign of good fortune for the awarded scientists, who become active actors in the field of human genetics research. No French PhD student or postdoctoral fellow was selected as finalists for this prize since 2010.


Marianne Lemée, finalist for her research on the regulation of neurodevelopment in autism spectrum disorders

Marianne Lemée, who arrived at IGBMC in January 2020 as a Master 1 student, began her thesis on the identification of genes related to autism in September 2021 at IGBMC, within the IMCBio program. This project aims to identify the gene responsible for neurodevelopmental anomalies associated with chromosomal rearrangements on chromosome 1. These abnormalities are responsible for the 1q21.1 syndrome which induces autistic traits in carrier patients.  

More precisely, Marianne Lemée's research has shown that the deregulation of CHD1L, gene present in the region of the 1q21.1 syndrome, induces neurodevelopmental anomalies. This research reveals a novel and hitherto role for this gene during cortical development. The project is now focused on elucidating the regulatory mechanisms of CHD1L in human cell models mimicking neurogenesis.

This work will help improve the patient care and diagnosis of patients with 1q21.1 syndrome, as well as explore new therapeutic avenues and better understand the etiology of autism, which affects 1% of the worldwide population.

Selected as one of 18 finalists from over 700 applications received, Marianne Lemée has already received a $1,000 grant from the ASHG and an invitation to the conference to be held at the Los Angeles Convention Center on October 25-29. She will defend her project during the finale at the Los Angeles Convention Center, which will take place on October 25, 2022.


Marianne Lemée and Christelle Golzio, scientists at IGBMC