BG 35 RM 2A-1006
35 CONVENT DR
BETHESDA MD 20814
Dr. Véronique Bolduc received her PhD in Molecular Biology from the Université de Montréal in 2012. Following that, she joined the Bönnemann lab at NINDS as a Visiting Fellow first, then as a Research Fellow. In 2021, she became Staff Scientist within the Bönnemann group.
Dr. Bolduc is a molecular biologist by training with a strong experience in human genetics. Her overarching goal is to understand the genetic basis of human diseases, and to design and implement effective treatments to address these diseases. During her doctoral training, she studied families with undiagnosed muscular disorders presenting as limb-girdle muscular dystrophies, and used linkage analyses and gene sequencing to identify the first pathogenic variants in the anoctamin 5 (ANO5) gene. As a post-doctoral fellow, she pursued her training in the field of inherited muscular dystrophies to expand therapeutic strategies for these debilitating disorders. She has developed RNA- and DNA-based strategies on in vitro models of collagen VI-related dystrophies, a rare group of often fatal muscular dystrophies of childhood onset. She has shown that RNA interference and splice-modulation antisense oligonucleotides, when tailored to specific classes of pathogenic variants in the collagen VI (COL6) genes, are valid approaches to suppress the dominant-negative product and restore the cellular phenotype. She is currently testing these approaches in in vivo models of collagen VI-related dystrophies, including a unique humanized knock-in Col6a1 mouse model that she generated.
In addition, Dr. Bolduc is collaborating with several academic research groups and pharmaceutical companies to advance and optimize delivery of RNA- and DNA-based therapeutics to the fibro-adipogenic progenitors, which are the main source of collagen VI in skeletal muscle.
Aguti S, Bolduc V, Ala P, Turmaine M, Bönnemann CG, Muntoni F, Zhou H. Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Mol Ther Nucleic Acids. 2020 Sep 4;21:205-216. doi: 10.1016/j.omtn.2020.05.029. Epub 2020 Jun 1. PubMed PMID: 32585628; PubMed Central PMCID: PMC7321786.
Bolduc V, Minor KM, Hu Y, Kaur R, Friedenberg SG, Van Buren S, Guo LT, Glennon JC, Marioni-Henry K, Mickelson JR, Bönnemann CG, Shelton GD.Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs. Neuromuscul Disord. 2020 May;30(5):360-367. doi: 10.1016/j.nmd.2020.03.005. Epub 2020 Apr 16. PubMed PMID: 32439203; PubMed Central PMCID: PMC7292757.
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight. 2019 Mar 21;4(6). doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21. PubMed PMID: 30895940; PubMed Central PMCID: PMC6483063.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 Apr 19;9(386). doi: 10.1126/scitranslmed.aal5209. PubMed PMID: 28424332; PubMed Central PMCID: PMC5548421.
Bolduc V, Zou Y, Ko D, Bönnemann CG. siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74. PubMed PMID: 24518369; PubMed Central PMCID: PMC3950771.
Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi: 10.1016/j.ajhg.2009.12.013. Epub 2010 Jan 21. PubMed PMID: 20096397; PubMed Central PMCID: PMC2820170.