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Christiane Auray

Professeure, Faculté de médecine et des sciences de la santé
FMSS Département de pédiatrie

Présentation

Sujet de recherche

Analyse des lipides/lipoprotéines, Asthme, Génétique et éthique, Services de santé, Techniques diagnostiques

Disciplines de recherche

Biochimie, Chimie, Droit, Génétique, Médecine préventive et communautaire, Mesures et évaluation, Néphrologie, Obstétrique et gynécologie, Pédiatrie

Mots-clés

Biobanques, Biomarqueurs, Dépistage, Éthique, Maladie de Fabry, Maladies génétiques, Maladies lysosomales, Métabolomique, Mucopolysaccharidoses, Spectométrie de masse

Intérêts de recherche

Une méthode simple par spectrométrie de masse en tandem pour l'analyse d'un biomarqueur, le globotriaosylcéramide (Gb3) a été développée pour la maladie de Fabry. Notre projet vise des études en métabolomique s'orientant vers la découverte de biomarqueurs au niveau de maladies lysosomales par des techniques d'empreintes et de profils métaboliques par spectrométrie de masse en temps de vol.

Centre de recherche

Centre de recherche du CHUS

Langues parlées et écrites

Anglais, Français

Diplômes

(2008). (Postdoctorat, Études postdoctorales-Fellowship). Duke University.

(2007). (Doctorat, Doctorat). Université de Sherbrooke.

(1998). (Maîtrise avec mémoire, LL.M. - Maîtrise). Université de Sherbrooke.

(1972). (Baccalauréat, B.Sc.). Université de Sherbrooke.

Expérience académique

Full Professor. (2018-). Université de Sherbrooke. Canada.

Scientific Director, Waters Centre of Innovation. (2019-2022).

Prix et distinctions

  • (2018) Prix Gilles Pigeon. Université de Sherbrooke. (Prix).
  • (2017) University Mission and Recognition Gala CIUSSS de l'Estrie CHUS Medical Centre (October 26 2017). Université de Sherbrooke. (Prix).
  • (2015) RECMUS, recognition for tutoring students. Université de Sherbrooke. (Prix).
  • Researcher of the Month (June 2019). Clinical Research Centre-CHUS. (Distinction).
  • Scientific Director, Waters Centre of Innovation. Waters Centre of Innovation. (Prix).

Financement

  • Subvention. (Obtenu). Cocandidat. Biomarker analysis in the phase III clinical trials of PRX-102 from Protalix. Protalix Ltd. Pharma Company. 644 085 $. (2017-2025)
  • Subvention. (Obtenu). Chercheur principal. Takeda Pharmaceuticals International AG. Takeda Pharmaceuticals Inc.. Investigator Initiated Research. 289 149 $. (2021-2024)
  • Contrat. (Obtenu). Collaborateur. An open-label, multinational study of the efficacy and safety of ex vivo lentiviral vector-mediated gene therapy AVR-RD-01 for treatment-naïve subject with classic Fabry disease. Avrobio Inc.. Pharma Company. 304 080 $. (2018-2024)
  • Subvention. (Obtenu). Chercheur principal. Biomarqueurs de la fibrose kystique. J.A. DeSève Foundation. 250 000 $. (2021-2023)
  • Subvention. (Obtenu). Chercheur principal. Découverte de biomarqueurs de la fibrose kystique par spectrométrie de masse. Fondation J.A. de Sève. Investigated Initiated Research. 250 000 $. (2021-2023)
  • Subvention. (Obtenu). Chercheur principal. Evaluation of biomarkers for patients receiving Migalastat after switching from enzyme replacement therapy. Amicus Therapeutics (USA). Investigator Initiated Research. 413 955 $. (2020-2023)
  • Contrat. (Obtenu). Chercheur principal. Chiesi Farmaceutici Phase III clinical trials of PRX-102-F90. Chiesi Group / Chiesi Farmaceutici. Pharma Company. 114 500 $. (2020-2023)
  • Subvention. (Obtenu). Chercheur principal. Rehaussement de la plateforme technologique pour la médecine génétique préventive. Fondation R. Howard Webster. Scientific Human Research. 150 000 $. (2019-2022)
  • Subvention. (Obtenu). Chercheur principal. Metabolomic studies for discovery of novel Gaucher disease biomarkers, and development and validation of methods in urine and plasma, (excluding type 2 and type 3 Gaucher disease). Shire Human Genetic Therapies. Investigator Initiated Research. 432 835 $. (2016-2022)
  • Subvention. (Obtenu). Cochercheur. Sanofi Genzyme. Sanofi-Aventis (Canada). Sanofi Genzyme Research Grants. 37 291 $. (2020-2022)
  • Subvention. (Obtenu). Chercheur principal. Batten disease (CLN2) biomarker discovery in urine and plasma using a mass spectrometry metabolomic approach. Biomarin Pharmaceutical Inc.. Investigator Initiated Research. 39 725 $. (2019-2022)
  • Contrat. (Obtenu). Chercheur principal. 4D Molecular Therapeutics Inc. (4DMT). 4D Molecular Therapeutics. Pharma Company. 94 650 $. (2019-2021)
  • Subvention. (Obtenu). Candidat principal. Analyse du lyso-Gb3 et de ses analogues dans le sang séché sur papier filtre. Sanofi Genzyme. .. 8 000 $. (2019-2020)
  • Contrat. (Terminé). Candidat principal. An 8-Week Intravenous Safety and Efficacy Study of 4D-310 in Male C57BL/6 129-GLAtm1Kul/J Mice. 4D Molecular Therapeutics. Service contract. 161 490 $. (2019-2020)
  • Contrat. (Obtenu). Candidat principal. Biomarker evaluation in mouse tissues. 4D Molecular Therapeutics. .. 161 490 $. (2019-2020)
  • Contrat. (Obtenu). Chercheur principal. Biomarker Gb3 and lyso-Gb3 analysis. Sigilon Therapeutics. Mouse Research Study. 89 362 $. (2018-2019)
  • Subvention. (Obtenu). Chercheur principal. Development and Validation of a Tandem Mass Spectrometry Methodology for the Analysis of Dermatan Sulfate and Heparan Sulfate in MPS II Mice Tissues. Shire Human Genetic Therapies. IIR. 302 569 $. (2017-2019)
  • Contrat. (Obtenu). Chercheur principal. Biomarker Gb3 and lyso-Gb3 from plasma and tissues will be analyzed. Moderna Therapeutics. Compagnie privée. 299 541 $. (2016-2019)
  • Subvention. (Obtenu). Cochercheur. Towards individual personalized management of ERT treated female Fabry disease Danish patients who are part of a nationwide long-term clinical registry in regards to plasma and urine novel glycosphingolipid biomarkers and the genotype. Shire Human Genetic Therapies. Investigated Initiated Research. 372 940 $. (2016-2019)
  • Subvention. (Obtenu). Chercheur principal. Upgrade of the technological platform for preventive genetic medicine for all newborns in Quebec. J.A. DeSève Foundation. Scientific Human Research. 180 000 $. (2018-2018)
  • Subvention. (Obtenu). Candidat principal. Biomarker evaluation for Fabry Disease SRT study. Genzyme Corp.. Biomarker evaluation for SRT study for Fabry Disease. 28 056 $. (2016-2017)
  • Subvention. (Obtenu). Candidat principal. Continuous training for professionals on the clinical and biological manifestations of Gaucher disease. Shire. Formation continue. 71 708 $. (2016-2017)
  • Subvention. (Obtenu). Chercheur principal. Development and validation of a Tandem Mass Spectrometry methodology for the Analysis of Keratan Sulfate Disaccharides in Urine Samples collected on Filter paper for patients with Mucopolysaccharidosis type IVA.. Biomarin Pharmaceutical Inc.. Investigator Initiated Research. 130 000 $. (2016-2017)
  • Subvention. (Obtenu). Chercheur principal. Waters Limited MS Research group. Waters Limited. Partenariat scientifique de développement en spectrométrie de masse. 16 900 $. (2016-2016)

Publications

Articles de revue

  • Marcel A Kelkel 1, Michel Boutin 1, Filipa Curado 2, Peter Bauer 2, Éliane Beauregard-Lacroix 3, François E Mercier 4, Bruno Maranda 1, Iskren Menkovic 1, Tristan Martineau 1, Christiane Auray-Blais 1. (2022). Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders. Bioanalysis 14 (5), 289-306. DOI. (Article publié).
  • Iskren Menkovic 1, Michel Boutin 1, Abdulfatah Alayoubi 2 3, Filipa Curado 4, Peter Bauer 4, François E Mercier 2, Christiane Auray-Blais 1. (2022). Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1. Journal of proteome research 21 (5), 1321-1329. DOI. (Article publié).
  • Michel Boutin 1, Nancy Presse 2 3 4, David Allard 3, Tristan Martineau 1, Pierrette Gaudreau 5 6, Christiane Auray-Blais 1. (2022). Methylmalonic acid analysis using urine filter paper samples to screen for metabolic vitamin B 12 deficiency in older adults. Bioanalysis 14 (9), 615-626. DOI. (Article publié).
  • Iskren Menkovic 1 , Michel Boutin 1 , Abdulfatah Alayoubi 2,3, Filipa Curado 4 , Peter Bauer 4 , François E. Mercier 2 and Christiane Auray-Blais 1,*. (2022). Quantitation of a Urinary Profile of Biomarkers in GaucherDisease Type 1 Patients Using Tandem Mass Spectrometry. Diagnostics 12 1414. DOI. (Article publié).
  • Iskren Menkovic 1, Michel Boutin 1, Abdulfatah Alayoubi 2 3, Filipa Curado 4, Peter Bauer 4, François E Mercier 2, Georges-Étienne Rivard 5, Christiane Auray-Blais 1. (2022). Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients. Bioanalysis 14 (4), 223-240. DOI. (Article publié).
  • He H. Huang, Cohen, A.A., Gaudreau, P., Auray-Blais, C., Allard, D., Boutin, M., Turcot, V., Presse, N. (2022). TVitamin B-12 intake from dairy but not meat isassociated with decreased risk of vitaminB-12 deficiency in older adults, , 2022 (inPress). The Journal of Nutrition 152 (11), 2483-92. DOI. (Article publié).
  • He H. Huang, Cohen, A.A., Gaudreau, P., Auray-Blais, C., Allard, D., Boutin, M., Turcot, V., Presse, N. (2022). VitaminB-12 intake from dairy but not meat is associated with decreased risk of vitamin B-12 deficiency inolder adults. Journal of Nutrition xx (xx), xx. (Article accepté).
  • Monique Budani 1, Christiane Auray-Blais 2, Clifford Lingwood 3. (2021). ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species. Journal of lipids research 62 100-128. DOI. (Article publié).
  • Aneal Khan 1, Dwayne L Barber 2 3, Ju Huang 2, C Anthony Rupar 4 5 6, Jack W Rip 4, Christiane Auray-Blais 7, Michel Boutin 7, Pamela O'Hoski 8, Kristy Gargulak 9, William M McKillop 9, Graeme Fraser 10, Syed Wasim 11, Kaye LeMoine 12, Shelly Jelinski 13 14, Ahsan Chaudhry 15, Nicole Prokopishyn 16, Chantal F Morel 17, Stephen Couban 18, Peter R Duggan 19, Daniel H Fowler 20, Armand Keating 2 21, Michael L West 22, Ronan Foley 8, Jeffrey A Medin 23 24 25. (2021). Lentivirus-mediated gene therapy for Fabry disease. Nature communications 12 (1), 1178. DOI. (Article publié).
  • Christiane Auray-Blais 1, Michel Boutin 1, Pamela Lavoie 1, Bruno Maranda 1. (2021). Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry. international journal of neonatal screening 7 (1), 18. DOI. (Article publié).
  • D Moreno-Martinez 1, P Aguiar 2, C Auray-Blais 3, M Beck 4, D G Bichet 5, A Burlina 6, D Cole 7, P Elliott 8, U Feldt-Rasmussen 9, S Feriozzi 10, J Fletcher 11, R Giugliani 12, A Jovanovic 13, C Kampmann 14, M Langeveld 15, O Lidove 16, A Linhart 17, M Mauer 18, J C Moon 19, A Muir 20, A Nowak 21, J P Oliveira 22, A Ortiz 23, G Pintos-Morell 24, J Politei 25, P Rozenfeld 26, R Schiffmann 27, E Svarstad 28, A S Talbot 29, M Thomas 30, C Tøndel 31, D Warnock 32, M L West 33, D A Hughes 34. (2021). Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. Molecular Genetics and metabolism 132 (4), 234-243. DOI. (Article publié).
  • Siamak Jabbarzadeh-Tabrizi, Michel Boutin*, Taniqua S Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen. (2020). Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model. Journal of lipid research on line first . DOI. (Article publié).
  • Bichet DG, Aerts JM, Auray-Blais C, Maruyama H, Mehta AB, Skuban N, Krusinska E, Schiffmann R. (2020). Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease. Genet Med. 2020 Sep 30 Ahead of print. DOI. (Article publié).
  • Michel Boutin, Pamela Lavoie, Iskren Menkovic, Amanda Toupin, Mona Abaoui, Maha Elidrissi-Elawad, Marie-Françoise Arthus, Carole Fortier, Claudia Ménard, Bruno Maranda, Daniel G Bichet, Christiane Auray-Blais. (2020). Diurnal variation of urinary Fabry disease biomarkers during Enzyme repalcement therapy cyclles. Int J Mol Sci 25 (21(17)), 6114. (Article accepté).
  • Lenders M , Boutin M* , Auray-Blais C , Brand E. (2020). Effects of orally delivered alpha-galactosidase A on gastrointestinal symptoms in patients with Fabry disease. Gastroenterology 159 (4), 1602-1604. DOI. (Article publié).
  • Grigoris Effraimidi, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie*, Mona Abaoui*, Michel Boutin*, Christiane Auray-Blais. (2020). Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort. Journal of Medical Genetics on line first . DOI. (Article publié).
  • Auray-Blais C , Lavoie P* , Abaoui M* , Côté AM , Boutin M* , Akbari A , Levin A , Mac-Way F , Tr Clarke J. (2020). High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients. Clinica chimica acta; international journal of clinical chemistry 501 234-240. DOI. (Article publié).
  • Menkovic Iskren, Boutin Michel, Alayoubi Abdulfatah, Mercier E. François, Rivard Georges-Étienne, Auray-Blais Christiane. (2020). Identification of a reliable biomarker profile forthe diagnosis of Gaucher disease type I patients using a mass spectrometry-basedmetabolomic approach. International Journal of Molecular Sciences 2020, 21, 7869 21 7869-7880. (Article publié).
  • Mhanni A , Boutin M* , Stockl F , Johnston J , Barnes J , Duerksen D , Zimmer L , Auray-Blais C , Rockman-Greenberg C. (2020). Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment. Diagnostics (Basel, Switzerland) 10 (2), 69. DOI. (Article publié).
  • Boutin M* , Presse N , Martineau T* , Perreault A , Gaudreau P , Auray-Blais C. (2020). Mass spectrometry analysis of urinary methylmalonic acid to screen for metabolic vitamin B12 deficiency in older adults. Bioanalysis 12 (10), 693-705. DOI. (Article publié).
  • Alharbi FJ , Baig S , Rambhatla SB , Vijapurapu R , Auray-Blais C , Boutin M* , Steeds R , Wheeldon N , Dawson C , Geberhiwot T. (2020). The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease. Clinica chimica acta; international journal of clinical chemistry 500 120-127. (Article publié).
  • Mhanni AA , Auray-Blais C , Boutin M* , Johnston A , LeMoine K , Patterson J , Aerts JMFG , West ML , Rockman-Greenberg C. (2020). Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres. Molecular genetics and metabolism reports 24 100618. DOI. (Article publié).
  • Limgala RP, Jennelle T, Plassmeyer M, Boutin M*, Lavoie P*, Abaoui M*, Auray-Blais C, Nedd K, Alpan O, Goker-Alpan O. (2019). Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfato agalsidase beta. Am J Transl Res. 11 (3) 1683-1696. DOI. (Article publié).
  • Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE. (2019). Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.2019 Jan;42(1):107-116. J Inherit Metab Dis 42 ((1)), 107-116. DOI. (Article publié).
  • Menkovic I* , Lavoie P* , Boutin M* , Auray-Blais C. (2019). Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS. Bioanalysis 11 (8), 727-740. DOI. (Article publié).
  • Medin JA, Khan A, Huang J, Barber D, Rupar CA, Auray-Blais C, Fraser G, Fowler DH, Keating A, West ML, Foley R. (2019). FACTs Fabry gene therapy clinical trial: Two-year data. Molecular Genetics and Metabolism 126 ((2)), s99. DOI. (Article publié).
  • Lenders M , Stappers F , Niemietz C , Schmitz B , Boutin M* , Ballmaier PJ , Zibert A , Schmidt H , Brand SM , Auray-Blais C , Brand E. (2019). Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. Journal of medical genetics 56 (8), 548-556. DOI. (Article publié).
  • Menkovic I*, Marchand AS, Boutin M*, Auray-Blais. (2019). Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS. Diagnostics 195 (4), 9. DOI. (Article publié).
  • Martineau T*, Boutin M*, Côté AM, Maranda B, Bichet DG, Auray-Blais C. (2019). Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients. Clin Chim Acta 495 67-75. DOI. (Article publié).
  • Pirault M, Pettazonni M, Lavoie P*, Ruet S, Pagan C, Cheilland D, Latour P, Vianey Saban C, Auray-Blais C, Froissart R. (2018). Contribution of mass spectrometry to the diagnosis of lysosomal storage disorders,. Journal of Inherited Metabolic Disease 41 (3), 457-477. DOI. (Article publié).
  • Yogasundaram H, Nikhanj A, Putko BN, Boutin M*, Jain-Ghai S, Khan A, Auray-Blais C, West ML, Oudit GY. (2018). Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction. 2018 Nov 6;7(21):e009098. J Am Heart Assoc. 7 ((21)), e009098. DOI. (Article publié).
  • Alharbi FJ, Baig S, Auray-Blais C, Boutin M*, Ward DG, Wheeldon N, Steed R, Dawson C, Hughes D, Geberhiwot T. (2018). Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease. J Inherit Metab Dis. 2018 . 41 (2), 239-247. DOI. (Article publié).
  • Toupin A*, Lavoie P*, Arthus MF, Abaoui M*, Boutin M*, Fortier C, Ménard C, Bichet DG, Auray-Blais C. (2018). Mass Spectrometry Analysis of Globotriaosylceramide (Gb3) Isoforms/Analogs in Unfractionated Leukocytes, B Lymphocytes and Monocytes from Fabry Patients,. Analytica Chimica Acta (1015), 35-49. (Article publié).
  • Michael P Nelson, Michel Boutin*, Tonia E Tse, Hailin Lu, Emily D Haley, Xiaosen Ouyang, Jianhua Zhang, Christiane Auray-Blais, John J Shacka 5. (2018). The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein. Neurobiology of disease 110 68-81. DOI. (Article publié).
  • Auray-Blais Christiane, Collerette-Tremblay Jasmin, Lavoie Pamela*. (2018). UPLC-MS/MS analysis of keratan sulfate from urine samples collected on filter paper for monitoring and follow-up of Morquio A patients. Bioanalysis BIO-2018-0064.R2 1181-1192. DOI. (Article publié).
  • Christiane Auray-Blais; Pamela Lavoie*; Michel Boutin*; Aimé Ntwari; Huang Chun-Kai; Hsu Ting-Rong; Dau-Ming Niu. (2017). Biomarkers Associated with Clinical Manifestations in Fabry Disease Patients with a Late-Onset Cardiac Variant Mutation. Clin Chim Acta. 466 185-193. DOI. (Article publié).
  • Waters PJ, Kitzler TM, Feigenbaum A, Geraghty MT, Al-Dirbashi O, Bherer P, Auray-Blais C, Gravel S, McIntosh N, Siriwardena K, Trakadis Y, Brunel-Guitton C, Al-Hertani W. (2017). Glutaric aciduria type 3:three unrelated Canadian cases, with different routes of ascertainment. JIMD Reports (2 août), DOI. (Article publié).
  • Auray-Blais, C., Lavoie, P*., Boutin, M*. and Abaoui, M*. (2017). High-risk screening for Fabry disease: Analysis by tandem mass spectrometry of globotriaosylceramide (Gb3) in urine collected on filter paper. Curr. Protoc. Hum. Genet. 93 17.26..26.12. 1-17. DOI. (Article publié).
  • Huang J, Khan A, A BC, Barber DL, López-Vásquez L, Boutin M*, Rothe M, Rip JW, Abaoui M*, Nagree MS, Dworski S, Schambach A, Keating A, West M, Turner P, Sirrs S, Rupar CA, Auray-Blais C, Foley R, Medin JA. (2017). Lentivector Iterations and Pre-clinical Scale-up/Toxicity testing: Targeting Patient Mobilized CD34+ Hematopoietic Cells for Correction of Fabry Disease. Molecular Therapy-Methods & Clinical Development 5 241-258. DOI. (Article publié).
  • Boutin M*, Menkovic I*, Martineau T*, Vaillancourt-Lavigueur V*, Toupin A*, Auray-Blais C. (2017). Separation and Analysis of Lactosylceramide, Galabiosylceramide, and Globotriaosylceramide by LC-MS/MS in Urine of Fabry Disease Patients. Anal Chem. 89 (24), 13382-13390. DOI. (Article publié).
  • Nelson MP, Boutin M*, Tse TE, Lu H, Haley ED, Ouyang X, Zhang J, Auray-Blais C, Shacka JJ. (2017). The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein. Neurobiol Dis. doi: 10.1016/j.nbd.2017.11.006. Epub 2017 Dec 2. 110 (Feb;110), 68-81. (Article publié).
  • Lévesque S, Auray-Blais C, Gravel E, Boutin M*, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A, Mathieu J, Maranda B, Désilets V, Waters PJ, Keutzer J, Austin S, Kishnani P. (2016). Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet J Rare Dis. 11 (1), 8. DOI. (Article publié).
  • Kamani MA, Provencal P*, Boutin M*, Pacienza N, Fan X, Novak A, Huang TC, Binnington B, Au BC, Auray-Blais C, Lingwood CA, Medin JA. (2016). Differential Acyl Chain Storage of Multiple Glycosphingolipids in Fabry Mice. Future Science OA 2 (4), DOI. (Article publié).
  • Auray-Blais C, Lavoie P*, Maranda B, Boutin M*. (2016). Evaluation of keratan sulfate disaccharides in patients affected with Morquio A syndrome (Mucopolysaccharidosis type IVA) using UPLC-MS/MS. Bioanalysis 8 (3), 179-191. DOI. (Article publié).
  • Lavoie P*, Boutin M*, Abaoui M*, Auray-Blais C. (2016). Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry. Curr Protoc Hum Genet. 90:17.22..22.12 1-17. DOI. (Article publié).
  • Mustafa A Kamani, Philippe Provençal*, Michel Boutin*, Natalia Pacienza, Xin Fan, Anton Novak, Tonny C Huang, Beth Binnington, Bryan C Au, Christiane Auray-Blais, Clifford A Lingwood, Jeffrey A Medin. (2016). Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion. Future Science OA. 2 (4), 147. DOI. (Article publié).
  • Abaoui M*, Michel Boutin M*, Lavoie P*, Auray-Blais C,. (2016). High-Risk Screening of Fabry Disease : Analysis of Fifteen Urinary Methylated and Non-Methylated Gb3 Isoforms using Tandem Mass Spectrometry. Curr Protoc Hum Genet Oct 11;91: 17.24.1-17.24.11. DOI. (Article publié).
  • Battista MC, Boutin M*, Venne P*, Blais L, Bérard A, Lacroix M, Patenaude J, Guillemette L, Cossette C, Hivert MF, Auray-Blais C. (2016). Maternal inhaled fluticasone propionate intake detected in neonatal cord blood. Bioanalysis (Jun 28), DOI. (Article publié).
  • Provençal P*, Boutin M*, Dworski S, Au B, Medin JA, Auray-Blais C. (2016). Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry. Bioanalysis 8 (Sep;8(17)), 1793-807. DOI. (Article publié).
  • Spacil Z, Kumar AB, Auray-Blais C, Stark S, Suhr TR, Scott CR, Turecek F, Gelb MH. (2016). Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples. Clinical Chemistry 62 279-86. DOI. (Article publié).
  • Abaoui M*, Boutin M*, Lavoie P*, Auray-Blais C. (2016). Tandem Mass Spectrometry Multiplex Analysis of Methylated and Non-Methylated Urinary Gb3 Isoforms in Fabry Disease Patients. Clin Chim Acta. 452 191-198. (Article publié).
  • Boutin M*, Lavoie P*, Abaoui M*, Auray-Blais C. (2016). Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients. Curr Protoc Hum Genet. 90:17.23 1-9. DOI. (Article publié).
  • Boutin M*, Sun Y, Shacka JJ,, Auray-Blais C. (2016). Tandem mass spectrometry multiplex analysis of glucosylceramide and galactosylceramide isoforms in brain tissues at different stages of Parkinson disease. Anal Chem. 88 (3), 1856-63. DOI. (Article publié).
  • Auray-Blais C, Lavoie P*, Tomatsu S, Valayannopoulos V, Mitchell JJ, Raiman J, Beaudoin M, Maranda B, Clarke JTR. (2016). UPLC-MS/MS Detection of Disaccharides Derived from Glycosaminoglycans as Biomarkers of Mucopolysaccharidoses. Anal Chim Acta 936 (Sept14;936), 139-48. DOI. (Article publié).
  • Rigden M, Pelletier G, Poon R, Zhu Jiping, Auray-Blais C, Gagnon René, Kubwabo C, Kosarac I, Lalonde K, Cakmak S, Xiao B, Leingartner K, Ku KL, Bose R, Jiao J,. (2015). Assessment of Urinary Metabolite Excretion Following Rat Acute Exposure to Perfluoroocta. Archives of Environmental Contamination and Toxicology 68 (1), 148-158. (Article publié).
  • Marc Rigden, Guillaume Pelletier, Raymond Poon, Jiping Zhu, Christiane Auray-Blais, René Gagnon*, Cariton Kubwabo, Ivana Kosarac, Kaela Lalonde, Sabit Cakmak, Bin Xiao, Karen Leingartner, Ka Lei Ku, Ranjan Bose, Jianli Jiao. (2015). Assessment of urinary metabolite excretion after rat acute exposure to perfluorooctanoic acid and other peroxisomal proliferators. Archives of environnemental contamination and toxicology 68 (1), 148-158. DOI. (Article publié).
  • Boutin M*., Auray-Blais C. (2015). Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers. J. Amer. Soc. Mass Spectrom. 26 (3), 499-510. DOI. (Article publié).
  • Auray-Blais C, Blais CM, Ramaswami U, Boutin M*, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JTR, Bichet DG, Warnock DG, Echevarria L, Lavoie P*. (2015). Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clin Chim Acta 438C 195-204. DOI. (Article publié).
  • Ferreira S, Auray-Blais C, Boutin M*, Lavoie P*, Nunes JP, Martins E, Garman S, Oliveira JP. (2015). Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma. Clin. Chim. Acta 447 96-104. DOI. (Article publié).

Chapitres de livre

  • Lavoie P*, Auray-Blais C. (2018). Depolymerisation of GAGs by Methanolysis and Analysis by Tandem Mass Spectrometry, Chapter 30. Nova Science Publishers, Inc.. Mucopolysaccharidoses Update (2 Volume Set) (ISBN: 978-1-53613-986-0, 550-551). États-Unis d'Amérique : Shunji Tomatsu, Chief-Editor. (Article publié).
  • Auray-Blais, C. (2015). Les soins du bébé, Dépistage des maladies métaboliques héréditaires. INSPQ. Mieux vivre avec notre enfant de la grossesse à 2 ans, ISBN : 978-2-550-60380-1 (550-551). Canada : INSPQ. (Article publié).

Autres contributions

Cours enseignés

  • Cytogénétique et génétique biochimique. GNT 630. (2016-08-30).Université de Sherbrooke. Canada.
  • Cours Biomolécules: Caractérisation et applications. BCM 502. (2013-09-16).Université de Sherbrooke. Canada.
  • Biochimie clinique. BCM 605. (2013-01-07).Université de Sherbrooke. Canada.
  • Cytogénétique humaine et médicale. GNT 616. (2013-01-07).Université de Sherbrooke. Canada.
  • Spectrométrie de masse et applications en santé. RBL 740. (2013-01-07).Université de Sherbrooke. Canada.
  • Génétique humaine et médicale. GNT 516. (2012-09-10).Université de Sherbrooke. Canada.

Gestion d'évènements

  • co-présidente et membre du comité organisateur. (2019) 7e Encan des vins de Sherbrooke, événement caritatif. (Club).
  • présidente et membre du comité scientifique organisateur. (2019) 8e Symposium sur la spectrométrie de masse. (Conférence).
  • Co-organizer and Chairman. (2018) 1st Canadian Symposium on Lysosomal Diseases. (Conférence).
  • présidente et membre du comité scientifique organisateur. (2017) 7e Symposium sur la spectrométrie de masse. (Conférence).
  • présidente et membre du comité scientifique organisateur. (2015) 6e Symposium sur la spectrométrie de masse. (Conférence).

Activités de collaboration internationale

  • Directrice scientifique. Canada. Waters Center of Innovation, premier centre canadien Waters.

Présentations

  • (2022). 4 Summary Presentations. World Symposium, Ambassador Program online.
  • (2022). Clinical and research projects in the Waters-CHUS Expertise Center in Clinical Mass Spectrometry. Waters Partnership. Sherbrooke
  • (2022). Importance du rôle des marqueurs biochimiques pour les patients atteints de la maladie de Fabry et de la maladie de Pompe. Les maladies lysosomales. Trois-Rivières, QC
  • (2022). Organ Specific Biomarkers for Fabry Disease. 7th International Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2022. Würzgurg, Allemagne
  • (2022). The Importance of Reliable Biomarkers for Lysosomal Storage Diseases. 360° Lysosome: From Structure to Genomics, From Function to Disease. Kusadasi/Izmir
  • (2021). 4 Presentations given. Sanofi-Genzyme Invitation virtuelle Post-World Symposium.
  • (2021). Ambassador Program from Sanofi Genzyme, 4 presentations given. World Annual Meeting 2021 online.
  • (2021). Biomarqueurs de la maladie de Fabry. Table ronde Fabry Virtuel. Canada
  • (2021). Importance des biomarqueurs analysés par spectrométrie de masse face aux maladies rares. Réunion scientifique de génétique médicale, CIUSSS de l'Estrie virtuel.
  • (2021). La recherche translationnelle applicable à tous: des nouveau-nés aux aînés!. Journée internationale des femmes, CR-CHUS Grande thématique virtuel.
  • (2021). La recherche translationnelle utilisant la spectrométrie de masse. Formation ISO pour les technologistes médicales.
  • (2021). Metabolomic studies for biomarker discovery in lysosomal storage disorders. Post-World Symposium Lectures.
  • (2021). Multiplex screening. Canadian MPS Society's National Family Conference Online. Canada
  • (2021). Novel glycosphingolipids detected for Fabry disease using a mass spectrometry approach. 9th International Singapore Lipid Symposium Online.
  • (2021). Novel glycosphingolipids detected for Fabry disease using a mass spectrometry approach,. 9th International Singapore Lipid Symposium Online. Canada
  • (2021). The hunt for the perfect biomarker. Fabry MasterClass online. Canada
  • (2020). Fabry Biomarkers: The Important Role of Lyso-Gb3 Analogues. Finnish Physicians WORLD lecture. Orlando, États-Unis d'Amérique
  • (2019). A Metabolomic Approach for Biomarker Discovery and Precision Medicine,. 1st Eastern Canada MS Conference,. Sherbrooke, Canada
  • (2019). A Metabolomic Approach for Biomarker Discovery and Precision Medicine,. 1st Eastern Canada MS Conference. Lennoxville, Canada
  • Michel Boutin. (2019). Biomarker Discovery and Translational Research Leading to Clinical Utility: Experimental Approaches and Pitfalls. MSACL EU 2019. Salzburg, Autriche
  • (2019). Biomarker Discovery and Translational Research Leading to Clinical Utility: Experimental Approaches and Pitfalls. MSACL EU 2019. Salzburg, Australie
  • (2019). Correlations Between Podocyturia and Lyso-Gb3 Analogues in Fabry Disease. European Symposium on LSDs (ESLSD), Guided Poster Tour Presentation, November 15, 2019. Madride, Espagne
  • (2019). Correlations Between Podocyturia and Lyso-Gb3 Analogues in Fabry Disease,. European Symposium on LSDs (ESLSD. Madrid, Espagne
  • (2019). Is Plasma Lyso-Gb3 Sufficient as the Only Sphingolipid Biomarker?. 5th Meeting of the Nordic Fabry Expert Group, October 1st, 2019. Hveragerdi, Islande
  • (2019). Is Plasma Lyso-Gb3 Sufficient as the Only Sphingolipid Biomarker?. 5th Meeting of the Nordic Fabry Expert Group, October 1st. Hveragerdi,, Islande
  • (2019). Lyso-Gb3 and Analogues: CFDI and FACTs Longitudinal Study. CFDI National Registry Annual Meeting. Toronto, Canada
  • (2019). Lyso-Gb3 and Analogues: CFDI and FACTs Longitudinal Study. CFDI National Registry Annual Meeting, October 4th, 2019. Ontario, Canada
  • (2019). Lyso-Gb3 and Analogues in Fabry Disease,. Sanofi-Genzyme Advisory Board,. Boston, États-Unis d'Amérique
  • (2019). Lyso-Gb3 and Analogues in Fabry Disease,. Sanofi-Genzyme Advisory Board. Boston, États-Unis d'Amérique
  • (2019). Lyso-Gb3 and Analogues in Late-Onset Attenuated Variants, ,. 6th Update on Fabry Disease, Biomarkers, Progression and Treatment Opportunities. Prague, Tchéquie
  • (2019). Newborn Urine Screening for Mucopolysaccharidoses Using a Tandem Mass Spectrometry Approach. Takeda Invitation,. Toronto, Canada
  • (2019). Novel Biomarkers for Podocyturia Evaluation in Fabry Disease. Fabry Connections (Amicus). London, Royaume-Uni
  • (2019). Novel Biomarkers for Podocyturia Evaluation in Fabry Disease. Fabry Connections (Amicus) October 26, 2019. Londres, Ukraine
  • (2019). Podocyturia Evaluation in Fabry Disease Using a Mass Spectrometry Approach,. RARD Meeting. Bogota, Colombie
  • (2019). Podocyturia Evaluation in Women with Preeclampsia and Fabry disease Patients Using a Tandem Mass Spectrometry Approach. MSACL EU 2019. Salzburg, Autriche
  • (2019). Podocyturia Evaluation in Women with Preeclampsia and Fabry disease Patients Using a Tandem Mass Spectrometry Approach. MSACL EU 2019. Salzburg, Autriche
  • (2019). The Significance of Mass Spectrometry for Translational Research in Precision Medicine,. Waters User’s Meeting. Atlanta, États-Unis d'Amérique
  • (2019). UPLC-MS/MS Detection of Biomarkers of Mucopolysaccharidoses. GRIDS 2019 – Neurological Outcomes in Lysosomal Disorders, November 25, 2019. Fairfax, États-Unis d'Amérique
  • (2019). UPLC-MS/MS Detection of Biomarkers of Mucopolysaccharidoses,. GRIDS 2019 – Neurological Outcomes in Lysosomal Disorders. Fairfax, États-Unis d'Amérique
  • (2018). A Technological Upgrade for Newborn Mass Urine Screening in the Province of Quebec: From TLC to MS/MS. SSIEM Symposium, 5 septembre 2018. Athens, Grèce
  • (2018). Biomarqueurs pour la maladie de Fabry et recherche translationnelle: du laboratoire jusqu'au suivi des patients. Souper-conférence organisé par Genzyme - Sanofi. Montréal, Canada
  • (2018). Liquid Chromatography-Tandem Mass Sectrometry Quantitative Biomarker Evaluation of Vitreous Fluid from a Gaucher Disease Type 3 Patient with Severe Ocular Involvement,. ESLSD - Shire Poster et possibilité de présentation orale 25 octobre 2018. Vienne, Autriche
  • (2018). Role of Lyso-Gb3 and Analogues as Biological Markers in Fabry Disease,. Fabry Connections - Amicus October 20 2018. Madrid, Espagne
  • (2018). The Importance of Biomarker Discovery in Precision Medicine. BIT's 9th World Gene Convention 2018 13 novembre 2018. Singapour
  • (2018). The Role of Chromatography in the Separation of Glucosylceramide Isoforms from their Isobaric Galactosylceramide Counterparts in the Era of Precision Medicine. MSACL 2018 EU, Salzburg Austria, September 13, 2018. Salzburg, Australie
  • (2018). UPLC-MS/MS Analysis of Keratan Sulfate Using Urine Samples COllected on Filter Paper, uGAG MS/MS Based Medthod Scienctific Workshop. Pour BiomMarin - Pharmaceutical September 3, 2018. Athens, Grèce
  • (2017). Biomarkers in Translational Research: From Discovery to Clinical Applications,. Waters ASMS Users Meeting June 3rd 2017. Indianapolis, IN, États-Unis d'Amérique
  • (2017). Biomarqueurs pour la maladie de Fabry: dépistage, diagnostic et suivi des patients,. Souper-conférence. Sherbrooke, QC, Canada
  • (2017). Emerging Biomarkers in LSDs. 1st Shire R&D Research Series “Shaping What’s Next in LSDs – Hot Topics” July 8, 2017. Londres, Royaume-Uni
  • (2017). Fabry Disease Biomarkers,. Principal Investigators Meeting, Protalix Biotherapeutics Inc. New York, March 10 2017. New York, NY, États-Unis d'Amérique
  • (2017). High-Risk Screening for Fabry Disease: What Can Easily Be Done for Early Detection. Fabry MasterClass Madrid Spain, May 6 2017. Madrid, Espagne
  • (2017). Les mucopolysaccharidoses: physiopathologie et nouveaux tests de dépistage par spectrométrie de masse. Souper-conférence Sherbrooke, QC, February 22 2017. Sherbrooke, Canada
  • (2017). Lyso-Gb3 and Analogues in Cardiac Variant Mutations. 5th Update on Fabry Nephropathy Mexico City, Mexico, April 26 2017. Mexico, Mexique
  • (2017). Mass Urine Screening for Inherited Metabolic Disorders Using a Reliable and Inexpensive Thin Layer Chromatography Methodology, Xth ISNS-Asia Pacific. Regional Meeting APRM 2017. Oulan Bator, Mongolie
  • (2017). Next Generation Sequencing: An Emerging Clinical Tool. Canadian Neurological Sciences Federation (CNSF), 52nd Annual Congress, Victoria, BC - June 20th 2017. Victoria, Canada
  • (2017). What can newly discovered Fabry disease biomarkers reveal about disease severity?. RARD, 2017 Moscow, May 20 2017. Moscow, Russie, Fédération de
  • (2016). Advances in Patient Diagnosis. MPS MasterClass Advanced. Barcelona, Espagne
  • (2016). A reliable multiplex mass spectrometry analysis of glycosaminoglycans for mucopolysaccharidoses. Sept. 7 2016,. SSIEM Annual Symposium. Rome, Italie
  • (2016). Biomarkers for Fabry Disease Patients with a Late-Onset Cardiac Variant Mutation,. Fabry Conference of Chinese Medical Association Meeting. Taipei, Taïwan
  • (2016). Découverte de biomarqueurs pour les maladies lysosomales utilisant une approche métabolomique,. Groupe de Ste-Justine, Souper-conférence Montréal, QC, 12 décembre 2016. Montréal, QC, Canada
  • (2016). Mass Spectrometry Applications: From Biomarker Discovery to Detection of Patients with Fabry Disease Having a Late-Onset Cardiac Mutation. MSACL 2016 EU Congress Chairman and Lecturer. Salzburg, Autriche
  • (2016). Mass Spectrometry Applications: From Biomarker Discovery to Detection of Patients with Fabry Disease Having a Late-Onset Cardiac Mutation Chairman and lecturer, Sept. 14 2016. MSACL 2016 EU Congress. Salzburg, Autriche
  • (2016). Mass Spectrometry Biomarker Analysis for the Identification, Monitoring and Follow-up of Patients. Garrod Annual Symposium. Halifax, NS, Canada
  • (2016). Principles of Metabolomics for Biomarker Discovery and Translational Research. Garrod Lunch Symposium. Halifax, NS, Canada
  • (2016). Qu'elle place pour le lyso-Gb3 et ses analogues dans le diagnostic et le suivi de la maladie de Fabry. Symposium Amicus Therapeutics. Deauville, France
  • (2016). Recent Advances in Biomarker Discovery for Fabry Disease: Detection, Diagnosis, and Monitoring Patients. Fabry Forum 2016. Tokyo, Japon
  • (2016). Recent Advances in Biomarker Discovery for Fabry Disease: Detection, Diagnosis, and Monitoring Patients. Meet the Specialist. Yokohama, Japon
  • (2015). La mucopolysaccharidose: symptômes et diagnostic. Souper-conférence aux pédiatres. Lévis, QC, Canada
  • (2015). La mucopolysaccharidose: symptômes et diagnostic. Clinique pédiatrique de Ste-Foy. Ste-Foy, QC, Canada
  • (2015). Mass Spectrometry approaches for translational research: from biomarker discovery to clinical application. International Summit on Current Trends in Mass Spectrometry. New Orleans, LA, États-Unis d'Amérique
  • (2015). Metabolomic Approaches to Understanding Biomarkers in LSDs. European symposium on LSDs. Barcelone, Espagne
  • (2015). Novel biomarkers for Fabry disease patients. Fabry Masterclass VII. Warsaw, Pologne
  • (2015). Understanding biomarkers in LSDs - A metabolomic approach. Gaucher Expert Summit. Amsterdam, Pays-Bas
  • (2015). Urinary Biomarkers in Translational Research: From Discovery to Clinical Applications. Urinomics and Nephromics 2015 meeting. Caparica, Portugal