CV Science

Eric Pasmant PharmD, PhD Molecular Genetics, HDR

Course and current status

Research career

- PharmD, Paris Faculty of Pharmacy, Paris Descartes University

- PhD in human molecular genetics at Paris Descartes University led by Pr. Vidaud (neurofibromatosis type 1: genotype-phenotype correlations and study of variable expressivity)

- Post-doctoral fellowship at the Curie Institute, UMR3215/U934, Dr. Margueron Team: Mechanisms of Repression by Polycomb Proteins (2016-2017)

- Professor in human molecular genetics, with a major focus on the genetics of neurofibromatosis 1, and on oncogenetics (endocrine predisposition syndromes, sarcoma tumoral genetics, NF1 tumors).

 

Research Activity

- Head of Team “Genomics and epigenetics of rare tumors”

Institut Cochin INSERM U1016 - CNRS UMR8104 - Université de Paris

https://www.institutcochin.fr/departments/drc/team-e-pasmant?set_language=en

- Publication record:

ResearcherID O-7249-2017 ; ORCID 0002-1881-87 ; Publons a/1282329/

89 publications in PubMed; H-index=27; Sum of times cited: 3100 ; SIGAPS=1301

European patent 17020402.8-1453

 

Teaching activity

-Teaching of human molecular genetics at pharmacy, medecine and sciences faculties - Paris University

Supervisor of genetics teaching, Pharmacy Faculty, Paris University

Supervisor of Parcours d’initiation à la recherche, mention Génétique, Health Faculty, Paris University

Supervisor of Master2 course: Molecular Genetic of Human Diseases, Sciences Faculty, Paris University

Supervisor of university diploma "Médecine génomique", Pharmacy Faculty, Paris University

- Research students training (10 masters, 3 PharmD, 3 PhD)

PhD supervision:

since 2020: Laurence Pacot; Genetics determinants of neurofibromatosis 1 variable expressivity

2015-2018: Camille Tlemsani; Molecular characterization of NF1 mutations in lung adenocarcinoma

2013-2016: Armelle Luscan; Genetics of malignant peripheral nerve sheath tumors

 

Medical career

Since 2019: Professor: Molecular and Genetics Department, Cochin Hospital, France

2014-2019: Associate professor: Molecular and Genetics Department, Cochin Hospital, France

2010-2014: Assistant: Biochemistry and Genetics Department, Beaujon Hospital, France

2007-2010: Residency in Medical Biology: Assistance-Publique des Hôpitaux de Paris, France

1997-2002: Pharmacy Doctor, Paris Descartes University, France

 

Hospital activity

-Ordre des pharmaciens, Registration number: 133752 - Section G, October 8 2007

-Accredited practitioner (Biomedicine Agency, July 2011) for medical constitutional genetic tests: Department of Molecular Genetics, Cochin Hospital, APHP.Centre Université de Paris

-Molecular diagnosis in constitutional oncogenetics (hereditary breast-ovarian cancer syndromes, digestive oncogenetics), constitutional endocrine tumor predisposition and neurofibromatoses

-Technical Manager of the Cochin NGS platform

-Accredited biologist in the national genomic medicine SeqOIA WGS platform: constitutional genetics (Cushing syndrome due to macronodular adrenal hyperplasia), constitutional oncogenetics (severe isolated or familial cases of hereditary cancer syndromes), and tumoral genetics (rare cancers)

 

Other activities

-Member of the National Academy of Pharmacy (since 2019)

-Member of the Board of the Paris cancer Institute (since 2019)

https://carpem.fr/en/paris-cancer-institute-carpem-3/oncogenetics-program/

-Member of the Executive Committee of the Graduate School Genetics and Epigenetics New Education

https://eur-gene.u-paris.fr/en/graduate-school-genetics-and-epigenetics-new-education

-Member of the Medical and Scientific Committee of the French Biomedicine Agency

-Member of the French Biomedicine Agency commission for medical certification for genetic analysis

-Manager of the genomic track of the GlucoGEN project of the Plan France Médecine Génomique 2025

https://pfmg2025.aviesan.fr/en/

-Member of the selection committee: Associate Professor positions, Pharmacy Faculty, Paris University

-Member of the "Tumor Genetics" national committee (CN2) of the ARC Foundation (2015-2018)

-Peer-reviewing for several international journals; Publons: https://publons.com/author/1282329/

-Member of French scientific societies, expert groups, and medical networks: National Association of Molecular Genetics Practitioners (ANPGM), French Association of Clinical Genetics and Genetic Counseling (AFGC), Francophone group of cytogenomics oncology (GFCO), Genetics and Cancer Group (GGC - UNICANCER)

Scientific summary

Head of Team “Genomics and epigenetics of rare tumors”

Institut Cochin INSERM U1016 - CNRS UMR8104 - Université de Paris

https://www.institutcochin.fr/departments/drc/team-e-pasmant?set_language=en

 

Research Topics

My main research projects are dedicated to the study of rare tumor-predisposition syndromes (including neurofibromatoses) and their associated cancerous (malignant) and noncancerous (benign) tumors. My team is interested in (1) the genetic and cellular mechanisms involved in the development of these pathologies, and (2) the genomics and therapeutic targeting of the associated tumors.

 

Objectives

The main interests of my team are:

(1) The study of genetics and epigenetics of tumor-predisposition disorders. We aim at understanding the mechanisms underlying the variable expressivity (study of genotype-phenotype correlations, identification of modifier genes, and development of high-throughput functional genomics approaches) and the genetic heterogeneity of rare hereditary tumor syndromes, including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. More recently, the team has initiated a research project dedicated to digestive tumor predisposition syndromes, including Peutz-Jeghers syndrome and polymerase proofreading-associated polyposis (PPAP). The team develops high-throughput functional genomic assays to interpret missense mutations in the POLE gene causative of PPAP;

(2) The functional characterization of NF1/NF2-driven tumors to identify the key drivers of tumorigenesis, and their targeting, through pharmacological and genetic screening.

 

Publication record

ResearcherID O-7249-2017 ; ORCID 0002-1881-87 ; Publons a/1282329/

89 publications in PubMed; H-index=27; Sum of times cited: 3136 ; SIGAPS=1301

European patent 17020402.8-1453

 

Fundings

2020-2021 Projet Innovation SIRIC CARPEM “Spatial transcriptomic” project coordinator (30 k€)

2020-2021 Cancéropôle Île-de-France: “POLE mutations” project coordinator (29 k€)

2019-2022 Gilbert Foundation: “NF1 lethality” project coordinator (700 k$)

2016-2020 SFCE children cancer: "RasInhib" project coordinator (60 k€)

2014-2018 AVIESAN Cancer: "EpiNF1" project coordinator (350 k€)

 

Five selected publications:

Wassef M, Luscan A, Aflaki S, Zielinski D, Jansen PWTC, Baymaz HI, Battistella A, Kersouani C, Servant N, Wallace MR, Romero P, Kosmider O, Just PA, Hivelin M, Jacques S, Vincent-Salomon A, Vermeulen M, Vidaud M, Pasmant E*, Margueron R*. EZH1/2 function mostly within canonical PRC2 and exhibit proliferation-dependent redundancy that shapes mutational signatures in cancer. Proc Natl Acad Sci U S A. 2019;116(13):6075-6080 *Corresponding authors

Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in pediatric acute myeloblastic leukaemia. Oncogene 2015;34:631-8

Luscan A, Shackleford G, Masliah-Planchon J, Laurendeau I, Ortonne N, Varin J, Lallemand F, Leroy K, Dumaine V, Hivelin M, Borderie D, De Raedt T, Valeyrie-Allanore L, Larousserie F, Terris B, Lantieri L, Vidaud M, Vidaud D, Wolkenstein P, Parfait B, Bieche I, Massaad C, Pasmant E. The activation of the WNT signalling pathway is a hallmark in Neurofibromatosis type 1 tumorigenesis. Clin Cancer Res. 2014;20:358-71

De Raedt T, Beert E*, Pasmant E*, Luscan A, Brems H, Ortonne N, Helin K, Hornick JL, Mautner V, Kehrer-Sawatski H, Clapp W, Bradner J, Vidaud M, Upadhyaya M, Legius E, Cichowski K. PRC2 loss amplifies Ras driven transcription and confers sensitivity to BRD4-based therapies. Nature 2014:514:247-51 *Equal contribution

Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, Vidaud M. Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1. J Natl Cancer Inst. 2011;103:1713-1722