Research Director
Available to host a PhD student


Starting from human genetics, our team isolates some genes involved in intellectual disability and others disorders of the mentalspectrum. Together with biologists and clinicians from AP-HP, we...


Billuart Pierre


2004                          Habilitation à Diriger des Recherches (University Paris V, France).

1999                          Ph. D. in Human genetic (University Paris V, France)

1997                          Pharm. D. (University Paris V, France)



2014-present            INSERM CR1 Principal Investigator at Cochin Institute (Paris)

2001- 2014               INSERM CR1 in Jamel Chelly’s laboratory at Cochin Institute (Paris)

2001-1999                Visiting Scholar in Liqun Luo’s Laboratory (Stanford University, USA.)

1999-1995                Ph. D. Student/ Supervisor: Jamel Chelly (University Paris V, France)


CITATION INDEX     n= 44, 2522 citations, H index:20



  • 1999-2001       HFSP and EMBO long-term fellowship awards
  • 1998                Award Prix Hélène Anavi, CEPH.
  • 1998                Laureate from Faculté de Pharmacie, Rhône Poulenc Rorer.
  • 1997                Research award, Fondation Bettencourt-Schueller.




ANR2018-2015 “NACID” (1st on the waiting list)                    300k€

Roche Program Fellowship 2015-2013                                    200k€

Fondation Jerome Lejeune 2010-2008                                    40k€



Eu FP7 2015-2010 (“Gencodys “Hans Van Bokhoven)        500k€

ANR 2014-2010 (“SynIQ “ YannHumeau)                         144k€

Eranet Neuron 2013-2010 (“AMRePACELL” Carlo Sala)      159k€



2015 2nd International Gencodys Conference in Chiana, Crete.

2011 VII Seminar on Small GTPases, Poitiers, France.

2010 Jacques Monod Seminar on Mental Retardation, Roscoff, France.

2007 Italian Society of Neurosciences, Verona, Italy.

2005 Seminar on genetic of mental retardation, College de France, Paris

2003 11thInternational workshop on X-linked Mental retardation, Cyprus.



PhD. Student Laure-Elise PILLET, co-direction with N. Rouach, CIRB.

PhD. Mariana Ramos-Brossier, ENP student, 2015, Postdoctoral fellow, Necker

PhD. Alice Pavlowsky, 2009, MC ESPCI

PhD. Fabien Fauchereau, 2004, MCU Paris7




M2 module“Human Genetic and Neurobiology Genetic” by T. Bourgeron and C. Petit, Institut        Pasteur

Jury at Ecole de l’INSERM



Ramos-Brossier M et al. (2015) Novel IL1RAPL1 mutations associatedwithintellectualdisability impair synaptogenesis. HumanMolecularGenetics 24:1106–1118.

Hu H et al. (2015) X-exomesequencing of 405 unresolvedfamiliesidentifiessevennovelintellectualdisabilitygenes. MolecularPsychiatry.doi :10.1038/mp.2014.193

Montjean R, Aoidi R, Desbois P, Rucci J, Trichet M, Salomon R, Rendu J, Faure J, Lunardi J, Gacon G, Billuart P, Dorseuil O (2015) OCRL-mutatedfibroblastsfrom patients with Dent-2 diseaseexhibit INPP5B-independent phenotypicvariabilityrelatively to Lowe syndrome cells. HumanMolecularGenetics 24:994–1006.

Pavlowsky A, Chelly J, Billuart P (2012) Emerging major synapticsignalingpathwaysinvolved in intellectualdisability. MolecularPsychiatry 17:682–693

Valnegri P, Khelfaoui M, Dorseuil O, Bassani S, Lagneaux C, Gianfelice A, Benfante R, Chelly J, Billuart P, Sala C, Passafaro M (2011) A circadianclock in hippocampusisregulated by interaction between oligophrenin-1 and Rev-erbalpha. Nature Neuroscience 14:1293–1301.

Pavlowsky A, Gianfelice A, Pallotto M, Zanchi A, Vara H, Khelfaoui M, Valnegri P, Rezai X, Bassani S, Brambilla D, Kumpost J, Blahos J, Roux MJ, Humeau Y, Chelly J, Passafaro M, Giustetto M, Billuart P, Sala C (2010) A postsynapticsignalingpathwaythatmayaccount for the cognitive defect due to IL1RAPL1 mutation. Currentbiology : CB 20:103–115.

Khelfaoui M, Pavlowsky A, Powell AD, Valnegri P, Cheong KW, Blandin Y, Passafaro M, Jefferys JG, Chelly J, Billuart P (2009) Inhibition of RhoApathwayrescues the endocytosisdefects in Oligophrenin1 mouse model of mental retardation. HumanMolecularGenetics 18:2575–2583.

Khelfaoui M, Denis C, van Galen E, de Bock F, Schmitt A, Houbron C, Morice E, Giros B, Ramakers G, Fagni L, Chelly J, Nosten-Bertrand M, Billuart P (2007) Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricularenlargement and dendriticspineimmaturity. The Journal of neuroscience : the official journal of the Society for Neuroscience 27:9439–9450.

Fauchereau F, Herbrand U, Chafey P, Eberth A, Koulakoff A, Vinet MC, Ahmadian MR, Chelly J, Billuart P (2003) The RhoGAPactivity of OPHN1, a new F-actin-bindingprotein, isnegativelycontrolled by itsamino-terminal domain. Molecular and cellular neurosciences 23:574–586.

Billuart P, Winter CG, Maresh A, Zhao X, Luo L (2001) Regulatingaxonbranchstability: the role of p190 RhoGAP in repressing a retractionsignalingpathway. Cell 107:195–207.

Billuart P, Bienvenu T, Ronce N, Portes des V, Vinet MC, Zemni R, RoestCrollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (1998) Oligophrenin-1 encodes a rhoGAPproteininvolved in X-linked mental retardation. Nature 392:923–926.