Lilit Antonyan

Lilit Antonyan

RARE.Qc Research Pillar Coordinator / Research Scientist

McGill University Health Centre (MUHC) Research Institute


NMD4C Involvement: 2027 Basic Science Research Summer School

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Research Interests: rare disease, stem cell research, disease modelling, personalized medicine, gene therapy, research support.

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Biography

Dr. Lilit Antonyan is a research scientist and Research Pillar Coordinator based in Montreal, Canada, with expertise spanning rare genetic disorders, stem cell biology, neurodevelopment, bone regeneration, and cartilage biology. Her scientific work has focused on bone fracture repair, chondrocyte biology, neurodevelopment, generation of induced pluripotent stem cell (iPSC) models, the investigation of molecular mechanisms underlying disease, and the development of targeted therapeutic approaches.
She earned her PhD in Genetics from McGill University, where she led pioneering research into Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disorder (SHD). Her doctoral work was instrumental in characterizing these neurodevelopmental conditions as protein dosage disorders using iPSC-derived neural cell models. Most notably, Dr. Antonyan was the first to propose and develop an RNA-based therapeutic approach for SGS using antisense oligonucleotides, offering a promising avenue toward the development of targeted treatments for this rare neurodevelopmental disorder.


Recent Publications

Antonyan, L, Zhang, X, Ni, A, Peng, H, Alsuwaidi, S, Fleming, P et al.. Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes. Hum Mol Genet. 2025.34 (8)651-667 PMID:39825586

Hettige, NC, Fleming, P, Semenak, A, Zhang, X, Peng, H, Hagel, MD et al.. FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells. Hum Mol Genet. 2023.32 (15)2511-2522 PMID:37216650

Antonyan, L, Ernst, C. Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development. Front Neurosci. 2022.16 813430 PMID:35685777

Jefri, M, Zhang, X, Stumpf, PS, Zhang, L, Peng, H, Hettige, N et al.. Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4). Hum Mol Genet. 2022.31 (21)3715-3728 PMID:35640156

Hettige, NC, Peng, H, Wu, H, Zhang, X, Yerko, V, Zhang, Y et al.. FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells. Stem Cell Reports. 2022.17 (3)475-488 PMID:35148845

Bell, S, McCarty, V, Peng, H, Jefri, M, Hettige, N, Antonyan, L et al.. Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells. Stem Cell Reports. 2021.16 (7)1749-1762 PMID:34214487

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