Carl Ernst PhD
6875 Boulevard LaSalle
Canada Research Chair in Psychiatric Genetics - Tier 2
Researcher, Douglas Research Centre
Assistant Professor, Department of Psychiatry, McGill University
Genetic and epigenetic variation associated with neurodevelopmental disorders
The Ernst lab expertise is in stem cell modelling of neurological disease and genetic engineering. As such, we recruit subjects and their families with rare neurological disorders and make stem cells and brain like cells from these individuals. Our short term goal is to perform functional genetic experiments to better understand disease mechanism, while our long term goal is to use genetic models of disease to test and develop mutation-specific treatments suitable for use in humans.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C*, Campeau PM*. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019 May 2;104(5):815-834.
Bell S, Maussion G, Jefri M, Peng H, Theroux JF, Silveira H, Soubannier V, Wu H, Hu P, Galat E, Torres-Platas SG, Boudreau-Pinsonneault C, O'Leary LA, Galat V, Turecki G, Durcan TM, Fon EA, Mechawar N, Ernst C. Disruption of GRIN2B Impairs Differentiation in Human Neurons. Stem Cell Reports. 2018 Jul 10;11(1):183-196.
Bell S, Peng H, Crapper L, Kolobova I, Maussion G, Vasuta C, Yerko V, Wong TP, Ernst C. A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing. Stem Cells Transl Med. 2017 Mar;6(3):886-896.
Ernst C. Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders. Trends Neurosci. 2016 May;39(5):290-29
Chen ES, Gigek CO, Rosenfeld JA, Diallo AB, Maussion G, Chen GG, Vaillancourt K, Lopez JP, Crapper L, Poujol R, Shaffer LG, Bourque G, Ernst C. Molecular convergence of neurodevelopmental disorders. Am J Hum Genet. 2014 Nov 6;95(5):490-508.
Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.Am J Hum Genet. 2012 Dec 7;91(6):1128-34. doi: 10.1016/j.ajhg.2012.10.016.
Department of Human Genetics Graduate Teaching Award
Canada Research Chair (Tier 2)
Tier 2 Chairs, tenable for five years and renewable once, are for exceptional emerging researchers, acknowledged by their peers as having the potential to lead in their field.
AFSP Young Investigator Award
This award is given by the American Foundation for Suicide Prevention (AFSP) to encourage talented new investigators to enter the field of suicide research through grants that provide training support and mentoring.
CIHR Bisby Award
Strategies to advance drug discovery in rare monogenic intellectual disability syndromes. Int J Neuropsychopharmacol. 2017.
Association of a History of Child Abuse With Impaired Myelination in the Anterior Cingulate Cortex: Convergent Epigenetic, Transcriptional, and Morphological Evidence. Am J Psychiatry. 2017:appiajp201716111286.
DNA Methylation Dynamics and Cocaine in the Brain: Progress and Prospects. Genes (Basel). 2017;8(5).
A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing. Stem Cells Transl Med. 2017;6(3):886-896.
Potential molecular consequences of transgene integration: The R6/2 mouse example. Sci Rep. 2017;7:41120.
Cover Image, Volume 173A, Number 2, February 2017. Am J Med Genet A. 2017;173(2):i.
Medium throughput bisulfite sequencing for accurate detection of 5-methylcytosine and 5-hydroxymethylcytosine. BMC Genomics. 2017;18(1):96.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A. 2017;173(2):395-406.
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. Mol Syndromol. 2016;7(6):302-311.
Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders. Trends Neurosci. 2016;39(5):290-9.
Neurons diversify astrocytes in the adult brain through sonic hedgehog signaling. Science. 2016;351(6275):849-54.
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. Am J Med Genet A. 2016;170A(5):1225-35.
Characterizing 5-hydroxymethylcytosine in human prefrontal cortex at single base resolution. BMC Genomics. 2015;16:672.
Investigation of genes important in neurodevelopment disorders in adult human brain. Hum Genet. 2015;134(10):1037-53.
Biomarker discovery: quantification of microRNAs and other small non-coding RNAs using next generation sequencing. BMC Med Genomics. 2015;8:35.
Comparative analysis of self-injury in people with psychopathology or neurodevelopmental disorders. Pediatr Clin North Am. 2015;62(3):619-31.
A molecular model for neurodevelopmental disorders. Transl Psychiatry. 2015;5:e565.
Astrocytic abnormalities and global DNA methylation patterns in depression and suicide. Mol Psychiatry. 2015;20(3):320-8.
Molecular convergence of neurodevelopmental disorders. Am J Hum Genet. 2014;95(5):490-508.
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet. 2014;94(6):870-83.
BisQC: an operational pipeline for multiplexed bisulfite sequencing. BMC Genomics. 2014;15:290.