- Overview
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I am a new staff member in Biochemical Diseases and was recruited on Sept 1st 2019. I was previously in Montreal, at CHU Sainte-Justine - Medical Geneticist, Medical Genetics Division, Department of Pediatrics and Biochemical Genetics Diagnostic Laboratory - Clinical Associate Professor, University of Montreal.
I worked as a medical geneticist, doing clinical and diagnostic lab work and research and have a specific expertise in inborn errors of metabolism, and the field of energy metabolism, mitochondrial diseases for which I have developed a multidisciplinary clinic in Montreal where we saw multiple patients with mitochondrial diseases. In parallel to the establishment of mitochondrial DNA sequencing and whole exome sequencing in the Molecular diagnostic laboratory and Genome Centre at CHU Sainte-Justine, I have established the functional diagnostic analysis in the biochemical genetics diagnostic laboratory : Blue Native PAGE and OXPHOS enzymatic activities on muscle fresh and frozen and fibroblasts to help improve the diagnostic yield of these conditions. I was the co-director of the biochemical genetics diagnostic laboratory and the director of the mitochondrial and lysosomal sectors of the lab. I was also part of the provincial multidisciplinary committee for enzyme replacement therapy for Gaucher disease.
Now, at BC Children's Hospital, UBC, in the biochemical diseases division, with my colleagues, we want to explore further the treatment area of the mitochondrial and energy metabolism diseases field to improve patient's care. The diagnostic yield of these diseases has improved but further research needs to be done to develop the treatment and management aspects of these diseases to help reduce the mortality and morbidity and improve their quality of life. We have set up a new metabolic myopathies multidisciplinary clinic at BC Children's. I will continue my collaboration on the RNA seq project and BC Children's is being added as another center for the RNA sequencing ongoing project: RNA sequencing of undiagnosed myopathies with inconclusive WES and mitochondrial DNA sequencing, CHU Sainte-Justine, University of Montreal to continue improving our diagnostic yield.
In parallel, we have recently applied for funding to BCCHR for a new project: we would like to propose a platform for the in vivo assessment of therapies for metabolic myopathies from diet, to exercise therapy to various medications and in the future for new therapeutic agents and for gene therapy by collaborating with Rajavel Elango using various biomarkers and stable isotope related to the energy system capacity and collaborating with the Heart Center and the exercise physiology lab of the Heart's Center. The metabolic myopathies we will focus on consist on the phosphorylation oxidative defects (mitochondrial myopathies), fatty acid oxidation defects and muscle glycolysis defects (mcArdle). We propose, using stable isotope at rest and in a standardized exercise setting to evaluate patient's in vivo response to treatments. The platform will not only enable us to created individualized plans tailored to patient's needs: diet, appropriate exercises programs and the benefits of existing therapeutic agents, but it could help in the evaluation of innovative pharmalogical and gene therapies in the future by enabling us to develop new biomarkers to follow the response to therapies. It will also help us develop specific exercise plans to enable these children to remain physically active, avoiding deconditioning and the risk of a energy crisis. This will complement our Canadian expertise in the field of energy metabolism.
- Publications
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The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
Molecular Genetics and Metabolism
DOI: 10.1016/j.ymgme.2024.108345
2024Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
BMC Pediatrics
DOI: 10.1186/s12887-023-04393-4
2024Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency
Molecular Genetics and Metabolism Reports
DOI: 10.1016/j.ymgmr.2023.100961
2023Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
JIMD Reports
Shelihan, I. and Rossignol, E. and Décarie, J.-C. and Bonnefont, J.-P. and Brivet, M. and Brunel-Guitton, C. and Mitchell, G.A.
DOI: 10.1002/jmd2.12243
2022Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1.
American journal of medical genetics. Part A
D'Amours G and Brunel-Guitton C and Delrue MA and Dubois J and Laberge S and Soucy JF
DOI: 10.1002/ajmg.a.61779
PubMed: 32776686
08/2020Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: Lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Orphanet Journal of Rare Diseases
Tingley, K. and Lamoureux, M. and Pugliese, M. and Geraghty, M.T. and Kronick, J.B. and Potter, B.K. and Coyle, D. and Wilson, K. and Kowalski, M. and Austin, V. and Brunel-Guitton, C. and Buhas, D. and Chan, A.K.J. and Dyack, S. and Feigenbaum, A. and Giezen, A. and Goobie, S. and Greenberg, C.R. and Ghai, S.J. and Inbar-Feigenberg, M. and Karp, N. and Kozenko, M. and Langley, E. and Lines, M. and Little, J. and MacKenzie, J. and Maranda, B. and Mercimek-Andrews, S. and Mohan, C. and Mhanni, A. and Mitchell, G. and Mitchell, J.J. and Nagy, L. and Napier, M. and Pender, A. and Potter, M. and Prasad, C. and Ratko, S. and Salvarinova, R. and Schulze, A. and Siriwardena, K. and Sondheimer, N. and Sparkes, R. and Stockler-Ipsiroglu, S. and Trakadis, Y. and Turner, L. and Van Karnebeek, C. and Vallance, H. and Vandersteen, A. and Walia, J. and Wilson, A. and Wilson, B.J. and Yu, A.C. and Yuskiv, N. and Chakraborty, P.
DOI: 10.1186/s13023-020-01358-z
2020Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13
Journal of Pediatric Intensive Care
Nicolas Nardi and François Proulx and Catherine Brunel-Guiton and Luc L. Oligny and Nelson Piché and Grant A. Mitchell and Jean Sébastien Joyal
DOI: 10.1055/s-0039-1697620
10/2019Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency
Molecular Genetics and Metabolism Reports
Apatean, D. and Rakic, B. and Brunel-Guitton, C. and Hendson, G. and Bai, R. and Sargent, M.A. and Lavoie, P.M. and Patel, M. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgmr.2019.100472
2019Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
Paediatrics and Child Health (Canada)
Zapata-Aldana, E. and McMillan, H.J. and Rupar, T. and Brunel-Guitton, C. and Chakraborty, P. and Mitchell, J.J. and Roth, J. and Tarnopolsky, M.A. and Turner, L. and Campbell, C.
DOI: 10.1093/pch/pxy153
2019Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
Journal of Inherited Metabolic Disease
Levtova, A. and Waters, P.J. and Buhas, D. and Lévesque, S. and Auray-Blais, C. and Clarke, J.T.R. and Laframboise, R. and Maranda, B. and Mitchell, G.A. and Brunel-Guitton, C. and Braverman, N.E.
DOI: 10.1002/jimd.12032
2019Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians,Les soins de santé prodigués au Canada à des individus atteints de troubles mitochondriaux : Une enquête menée auprès de médecins
Canadian Journal of Neurological Sciences
Paik, K. and Lines, M.A. and Chakraborty, P. and Khangura, S.D. and Latocki, M. and Al-Hertani, W. and Brunel-Guitton, C. and Khan, A. and Penny, B. and Rockman-Greenberg, C. and Rupar, C.A. and Sondheimer, N. and Tarnopolsky, M. and Tingley, K. and Coyle, D. and Dyack, S. and Feigenbaum, A. and Geraghty, M.T. and Gillis, J. and Van Karnebeek, C.D.M. and Kronick, J.B. and Little, J. and Potter, M. and Siriwardena, K. and Sparkes, R. and Turner, L.A. and Wilson, K. and Buhas, D. and Potter, B.K.
DOI: 10.1017/cjn.2019.240
2019Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
Molecular Genetics and Metabolism Reports
Apatean, D. and Rakic, B. and Brunel-Guitton, C. and Hendson, G. and Bai, R. and Sargent, M.A. and Lavoie, P.M. and Patel, M. and Stockler-Ipsiroglu, S.
DOI: 10.1016/j.ymgmr.2018.12.006
2019Acute pediatric hyperammonemia: current diagnosis and management strategies
Hepatic Medicine: Evidence and Research
Nadia Savy and David Brossier and Catherine Brunel-Guitton and Laurence Ducharme-Crevier and Geneviève Du Pont-Thibodeau and Philippe Jouvet
DOI: 10.2147/hmer.s140711
09/2018Glutaric aciduria type 3: Three unrelated canadian cases, with different routes of ascertainment
JIMD Reports
DOI: 10.1007/8904_2017_49
2018Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy
Clinical Genetics
Perrier, S. and Gauquelin, L. and Tétreault, M. and Tran, L.T. and Webb, N. and Srour, M. and Mitchell, J.J. and Brunel-Guitton, C. and Majewski, J. and Long, V. and Keller, S. and Gambello, M.J. and Simons, C. and Vanderver, A. and Bernard, G.
DOI: 10.1111/cge.13126
2018Atypical juvenile presentation of G
M2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene
Molecular Genetics and Metabolism Reports
Martins, C. and Brunel-Guitton, C. and Lortie, A. and Gauvin, F. and Morales, C.R. and Mitchell, G.A. and Pshezhetsky, A.V.
DOI: 10.1016/j.ymgmr.2017.01.017
2017The Québec NTBC study
Advances in Experimental Medicine and Biology
DOI: 10.1007/978-3-319-55780-9_17
2017Premature Ovarian Failure in French Canadian Leigh Syndrome
Journal of Pediatrics
Ghaddhab, C. and Morin, C. and Brunel-Guitton, C. and Mitchell, G.A. and Van Vliet, G. and Huot, C.
DOI: 10.1016/j.jpeds.2017.02.008
2017Patient care standards for primary mitochondrial disease: A consensus statement from the mitochondrial medicine society
Genetics in Medicine
Parikh, S. and Goldstein, A. and Karaa, A. and Koenig, M.K. and Anselm, I. and Brunel-Guitton, C. and Christodoulou, J. and Cohen, B.H. and Dimmock, D. and Enns, G.M. and Falk, M.J. and Feigenbaum, A. and Frye, R.E. and Ganesh, J. and Griesemer, D. and Haas, R. and Horvath, R. and Korson, M. and Kruer, M.C. and Mancuso, M. and McCormack, S. and Raboisson, M.J. and Reimschisel, T. and Salvarinova, R. and Saneto, R.P. and Scaglia, F. and Shoffner, J. and Stacpoole, P.W. and Sue, C.M. and Tarnopolsky, M. and Van Karnebeek, C. and Wolfe, L.A. and Cunningham, Z.Z. and Rahman, S. and Chinnery, P.F.
DOI: 10.1038/gim.2017.107
2017Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Journal of Medical Genetics
Yang, H. and Al-Hertani, W. and Cyr, D. and Laframboise, R. and Parizeault, G. and Wang, S.P. and Rossignol, F. and Berthier, M.-T. and Giguère, Y. and Waters, P.J. and Mitchell, G.A. and Alvarez, F. and Brunel-Guitton, C. and Buhas, D. and Dubois, J. and Gosselin, M. and Halac, U. and Maranda, B. and Mitchell, J. and Turcotte, J.-F.
DOI: 10.1136/jmedgenet-2016-104289
2017Response to Newman et al.
Genetics in Medicine
Parikh, S. and Goldstein, A. and Karaa, A. and Koenig, M.K. and Anselm, I. and Brunel-Guitton, C. and Christodoulou, J. and Cohen, B.H. and Dimmock, D. and Enns, G.M. and Falk, M.J. and Feigenbaum, A. and Frye, R.E. and Ganesh, J. and Griesemer, D. and Haas, R. and Horvath, R. and Korson, M. and Kruer, M.C. and Mancuso, M. and McCormack, S. and Josee Raboisson, M. and Reimschisel, T. and Salvarinova, R. and Saneto, R.P. and Scaglia, F. and Shoffner, J. and Stacpoole, P.W. and Sue, C.M. and Tarnopolsky, M. and Van Karnebeek, C. and Wolfe, L.A. and Zolkipli Cunningham, Z. and Rahman, S. and Chinnery, P.F.
DOI: 10.1038/gim.2017.164
2017Reply
Journal of Pediatrics
Ghaddhab, C. and Morin, C. and Brunel-Guitton, C. and Mitchell, G.A. and Van Vliet, G. and Huot, C.
DOI: 10.1016/j.jpeds.2017.04.067
2017A highly diverse portrait: Heterogeneity of neuropsychological profiles in cblc defect
JIMD Reports
DOI: 10.1007/8904_2015_517
2016Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests
Journal of Inherited Metabolic Disease
Sasarman, F. and Maftei, C. and Campeau, P.M. and Brunel-Guitton, C. and Mitchell, G.A. and Allard, P.
DOI: 10.1007/s10545-015-9903-z
2016Normal cerebrospinal fluid pyridoxal 5'-phosphate level in a PNPO-deficient patient with neonatal-onset epileptic encephalopathy
JIMD Reports
DOI: 10.1007/8904_2015_413
2015An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Human Molecular Genetics
Hinttala, R. and Sasarman, F. and Nishimura, T. and Antonicka, H. and Brunel-Guitton, C. and Schwartzentruber, J. and Fahiminiya, S. and Majewski, J. and Faubert, D. and Ostergaard, E. and Smeitink, J.A. and Shoubridge, E.A.
DOI: 10.1093/hmg/ddv149
2015Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
BMC Pediatrics
Khangura, S.D. and Karaceper, M.D. and Trakadis, Y. and Mitchell, J.J. and Chakraborty, P. and Tingley, K. and Coyle, D. and Grosse, S.D. and Kronick, J.B. and Laberge, A.-M. and Little, J. and Prasad, C. and Sikora, L. and Siriwardena, K. and Sparkes, R. and Speechley, K.N. and Stockler, S. and Wilson, B.J. and Wilson, K. and Zayed, R. and Potter, B.K. and Austin, V. and Feigenbaum, A. and Nagy, L. and Brownwell, M. and Brunel, C. and Casey, R. and Chan, A. and Jain, S. and Chapman, M. and Dyack, S. and Gillis, J. and Dodds, L. and Fell, D. and Geraghty, M. and Langley, E. and Giezen, A. and Ueda, K. and Vallance, H. and Greenberg, C. and Guttmann, A. and Hayeems, R. and Miller, F. and Khan, A. and MacKenzie, J. and Maranda, B. and Mhanni, A. and Mitchell, G. and Nakhla, M. and Pender, A. and Potter, M. and Turner, L. and van Karnebeek, C.
DOI: 10.1186/s12887-015-0323-x
2015De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy
Human Mutation
Lee, J.-R. and Srour, M. and Kim, D. and Hamdan, F.F. and Lim, S.-H. and Brunel-Guitton, C. and Décarie, J.-C. and Rossignol, E. and Mitchell, G.A. and Schreiber, A. and Moran, R. and Van Haren, K. and Richardson, R. and Nicolai, J. and Oberndorff, K.M.E.J. and Wagner, J.D. and Boycott, K.M. and Rahikkala, E. and Junna, N. and Tyynismaa, H. and Cuppen, I. and Verbeek, N.E. and Stumpel, C.T.R.M. and Willemsen, M.A. and de Munnik, S.A. and Rouleau, G.A. and Kim, E. and Kamsteeg, E.-J. and Kleefstra, T. and Michaud, J.L.
DOI: 10.1002/humu.22709
2015The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
Human Molecular Genetics
Sasarman, F. and Thiffault, I. and Weraarpachai, W. and Salomon, S. and Maftei, C. and Gauthier, J. and Ellazam, B. and Webb, N. and Antonicka, H. and Janer, A. and Brunel-Guitton, C. and Elpeleg, O. and Mitchell, G. and Shoubridge, E.A.
DOI: 10.1093/hmg/ddv044
2015LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
Molecular Genetics and Metabolism Reports
Meijer, I.A. and Sasarman, F. and Maftei, C. and Rossignol, E. and Vanasse, M. and Major, P. and Mitchell, G.A. and Brunel-Guitton, C.
DOI: 10.1016/j.ymgmr.2015.10.010
2015Inborn errors of cytoplasmic triglyceride metabolism
Journal of Inherited Metabolic Disease
Wu, J.W. and Yang, H. and Wang, S.P. and Soni, K.G. and Brunel-Guitton, C. and Mitchell, G.A.
DOI: 10.1007/s10545-014-9767-7
2015Mitochondrial Diseases and Cardiomyopathies
Canadian Journal of Cardiology
Brunel-Guitton, C. and Levtova, A. and Sasarman, F.
DOI: 10.1016/j.cjca.2015.08.017
2015Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
Molecular Genetics and Metabolism
Brunel-Guitton, C. and Casey, B. and Coulter-Mackie, M. and Vallance, H. and Hewes, D. and Stockler-Ipsiroglu, S. and Mercimek-Mahmutoglu, S.
DOI: 10.1016/j.ymgme.2011.02.009
2011LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria
Molecular Biology of the Cell
Sasarman, F. and Brunel-Guitton, C. and Antonicka, H. and Wai, T. and Shoubridge, E.A. and Allen, B. and Burelle, Y. and Charron, G. and Coderre, L. and DesRosiers, C. and Laprise, C. and Morin, C. and Rioux, J.
DOI: 10.1091/mbc.E10-01-0047
2010Treatment of cobalamin C (cblC) deficiency during pregnancy
Journal of Inherited Metabolic Disease
Brunel-Guitton, C. and Costa, T. and Mitchell, G.A. and Lambert, M.
DOI: 10.1007/s10545-010-9202-7
2010Enzyme replacement therapy in pediatric patients with Gaucher disease: What should we use as maintenance dosage?
Molecular Genetics and Metabolism
Brunel-Guitton, C. and Rivard, G.-E. and Galipeau, J. and Alos, N. and Miron, M.-C. and Therrien, R. and Mitchell, G. and Lapierre, G. and Lambert, M.
DOI: 10.1016/j.ymgme.2008.11.158
2009 - Research
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Knocking mouse model and role of CMPK2 in mitochondrial dNTP metabolism
Creation of a knocking mouse model to further characterize the role of CMPK2 in mitochondrial dNTP metabolism and to test the efficacy of a supplemental therapy, CHU Sainte-Justine.RNA sequencing in undiagnosed myopathies
Collaboration for RNA sequencing in undiagnosed myopathies after normal WES and mitochondrial DNA sequencing, CHU Sainte-Justine, University of Montreal and Collaboration with BC Children's Hospital in process.Cardiovascular evaluation and exercise intolerance characterization of patients
Collaboration with the department of kinesiology and cardiology to establish a cardiovascular evaluation and exercise intolerance characterization of patients with various type of myopathies, followed by the establishment of exercise programsGrantsCreation of a knocking mouse model to further characterize the function of CMPK2, a nuclear-encoded gene involved in mitochondrial dNTP metabolism and identified in a patient with a mitochondrial disease ressembling mitochondrial neurogastrointestinal encelphalopathy and to test the efficacy of a supplemental therapy. Funding from Rare Diseases
Models & Mechanisms Network (RDMN) Network
Funding to support the development of the mitonchondrial diseases functional analysis in the biochemical genetics diagnostic laboratory, CHU Sainte-Justine. Funding from Genzyme-Sanofi
Project Go Mimo
Functional analysis of new variants identified in children with mitochondrial diseases
TRNT1, DNLZ, HARS2, NDUFA4, NDUFA8. Funding from Fondation Pierre-Lavoie
Honours & Awards2010 Nomination InCytes for article of the year, co-first author
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria
Previously, Canadian National Team Member Rock Climbing, CEC Climbing Escalade Canada
BCCHR research could help set new international standard for young children receiving bone marrow transplants
The findings from a BCCHR study played a part in integrating the multiple breath washout test into recent recommendations to screen children for pulmonary chronic graft-versus-host disease, a lung complication that can affect children who undergo a bone marrow transplant.
