Researcher

Title

• Full Time Associate Professor, Department of Pediatrics, Faculty of Medicine, University of Montréal
• Medical Geneticist, CHU Sainte Justine
• Scientific Director, CARTaGENE, 2015

Career Summary

Our research is focussed on neuropsychiatric disorders of genetic origin. We integrate genetic, neuroimaging, biomarker and clinical data to investigate how specific loci or genes lead to clinical symptoms and impairments.

Our group studies disorders related to mutations in the FMR1 gene. In collaboration with other research groups, we have characterized the neuro-degenerative disorder associated with the FMR1 premutation (Fragile X-associated tremor/ataxia syndrome). This triplet repeat disorder affects adult carriers of premutation alleles who develop ataxia, intention tremor, cognitive decline, neuropathy, parkinsonism and autonomic dysfunction.

In collaboration with the industry and academic groups, we also led the development and implementation of a series of controlled trial assessing investigational targeted therapies in fragile X syndrome. These trials represent a paradigm shift and are among the first targeted therapeutic trials in neurodevelopmental disorders.

We are also actively studying genomic structural variants associated with autism and schizophrenia. In particular, we are investigating gene dosage effects of these genomic regions on cognitive and behavioural symptoms as well as neuroanatomy.

Awards and Distinctions

• 2014, Canadian Research chair in genetics of neuro-developpemental disorders
• 2014, Jeanne et Jean-Louis Levesque fund in genetics of neuropsychiatric disorders
• 2010, Clinical Research Award, University of Lausanne Medical school FBM-CHUV
• 2010, Leenaards Foundation award
• 2004, Fragile X national foundation award for research on FXTAS, 9th International Fragile X Conference, Washington DC
• 2003, Post Doctoral award for clinical research, American Society of Human Genetics, Los Angeles

Publications

1. Maillard AM*, Ruef A*, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C4, Conus P, Männik K3,  Zazhytska M3, Siffredi V1, Maeder P5, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS , Reymond A, Draganski B, Jacquemont S. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Molecular Psychiatry, in press.
2. Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders. Am J Hum Genet 2014 Mar 6;94(3):415-25. doi: 10.1016.
3. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Frank Kooy R, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Joly Helas G, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, Macdermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Antonietta Mencarelli M, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Coumba Ndiaye N, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Paolo Ramelli G, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus.  Nature 2011 Aug 31. doi: 10.1038
4. Walters RG*, Jacquemont S*, (*shared 1st authorship) Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cu isset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature.  Feb 4;463(7281):671
5. Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B. Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056. Science, Translational Medicine. 2011 Jan 5;3(64):64ra1.
6. Jacquemont, S.et al.  Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol, 2007. 6(1): p. 45-55.
7. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA, 2004. 291(4): p. 460-9.
8. Jacquemont, S.et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet, 2003. 72(4): p. 869-78.