Recherche translationnelle pour l’implémentation de la médecine génomique dans les maladies rares

Domaines d'expertise

Innovations dans les stratégies de diagnostic des maladies rares afin d’appréhender au mieux la prise en charge du patient.

Axes de recherche

• Développement de projets de recherche translationnelle pour le transfert des technologies de séquençage haut débit pangénomique dans le diagnostic des maladies rares, notamment avec anomalies du développement.
• Implémenter la médecine génomique au quotidien pour réduire l’odyssée diagnostique des patients atteints de maladies rares, notamment avec anomalies du développement.

Exemples de Réalisations

• Nambot S., Thevenon J., Kuentz P., Duffourd Y., Tisserant E., Bruel AL., Mosca-Boidron AL., Masurel-Paulet A., Lehalle D., Jean-Marçais N., Lefebvre M., Vabres P., El Chehadeh-Djebbar S., Philippe C., Tran Mau-Them F., St-Onge J., Jouan T., Chevarin M., Poé C., Carmignac V., Vitobello A., Callier P., Rivière JB., Faivre L., Thauvin-Robinet C. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med. 2018 Jun;20(6):645-654.
• Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N; Orphanomix Physician’s Group, Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C. Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. Eur J Hum Genet. 2019 Oct;27(10):1519-1531. doi: 10.1038/s41431-019-0442-1. Epub 2019 Jun 23. PMID: 31231135 Free PMC article.
• Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-Marçais N; Orphanomix Physicians’ Group, Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-Boidron AL, Callier P, Philippe C, Faivre L, Thauvin-Robinet C. 2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases. Genet Med. 2019 Jul;21(7):1657-1661. doi: 10.1038/s41436-018-0383-z. Epub 2018 Dec 19. PMID: 30563986
• Lecoquierre F, Duffourd Y, Vitobello A, Bruel AL, Urteaga B, Coubes C, Garret P, Nambot S, Chevarin M, Jouan T, Moutton S; Orphanomix Physician’s Group, Tran-Mau-Them F, Philippe C, Sorlin A, Faivre L, Thauvin-Robinet C. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genet Med. 2019 Nov;21(11):2504- 2511. doi: 10.1038/s41436-019-0518-x. Epub 2019 Apr 30. PMID: 31036916
• Bruel AL, Vitobello A, Tran Mau-Them F, Nambot S, Sorlin A, Denommé-Pichon AS, Delanne J, Moutton S, Callier P, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Clin Genet. 2020 Nov;98(5):433-444. doi: 10.1111/cge.13764. Epub 2020 May 31. PMID: 32335911 Review.
• Tran Mau-Them F, Moutton S, Racine C, Vitobello A, Bruel AL, Nambot S, Kushner SA, de Vrij FMS, Lehalle D, Jean-Marçais N, Lecoquierre F, Delanne J, Thevenon J, Poe C, Jouan T, Chevarin M, Geneviève D, Willems M, Coubes C, Houcinat N, Masurel-Paulet A, Mosca-Boidron AL, Tisserant E, Callier P, Sorlin A, Duffourd Y, Faivre L, Philippe C, Thauvin-Robinet C. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. Hum Genet. 2020 Nov;139(11):1381-1390. doi: 10.1007/s00439-020-02178-8. Epub 2020 May 12. PMID: 32399599
• Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30. PMID: 32732226
• Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, Béjot Y, Philippe C, Thauvin-Robinet C, Moutton S. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. J Med Genet. 2021 Mar 5:jmedgenet-2020-107369. doi: 10.1136/jmedgenet-2020-107369. Online ahead of print.PMID: 34085946
• Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel AL, Denommé-Pichon AS, Nambot S, Delanne J, Moutton S, Sorlin A; Orphanomix Physician’s Group, Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron AL, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C. Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Mol Genet Genomic Med. 2021 Oct 30:e1836. doi: 10.1002/mgg3.1836. Online ahead of print.PMID: 34716697 
• Denommé-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L, Thauvin-Robinet C. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. Eur J Hum Genet. 2021 Nov 15. doi: 10.1038/s41431-021-00998-4. Online ahead of print. PMID: 34782754

En complèment

Mots-clés complémentaires : médecine génomique - diagnostic - maladies rares - recherche translationnelle