Science & Technology
Publications

X-Reactivation
Publications
Pharmacological reactivation of inactive X-linked Mecp2 in cerebral cortical neurons of living mice.
Proceedings of the National Academy of Sciences of the USA, 2018.
Posters & Presentations
A novel gene therapy for Rett Syndrome through reactivation of the silent X chromosome.
Presented at the 25th American Society of Gene and Cell Therapy (ASGCT) Annual Meeting, 2022. *Received Excellence in Research Award
Relevant Scientific Publications
Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome.
Trends in Genetics, 2022.
X inactivation and reactivation in X-linked diseases.
Seminars in Cell and Developmental Biology, 2016.
Gene Replacement
Publications
Single-dose gene-replacement therapy for Spinal Muscular Atrophy
The New England Journal of Medicine, 2017.
Posters & Presentations
Evaluation of AAV9 gene therapy for SMARD1/CMT2S in different mouse models reveal differences in efficacy dependent on promoter choice.
Presented at the 25th American Society of Gene and Cell Therapy (ASGCT) Annual Meeting, 2022.
Multicenter AAV gene therapy studies for SMARD1/CMT2S establish safety and efficacy in multiple animal models and pave the way for initiation of a Phase I/II clinical trial.
Presented at the 25th American Society of Gene and Cell Therapy (ASGCT) Annual Meeting, 2022.
Relevant Scientific Publications
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.
Journal of Cellular and Molecular Medicine, 2020.
Vectorized Exon Skipping
Relevant Scientific Publications
Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping.
Molecular Therapy Methods and Clinical Development, 2021.
Promoter Modulation
Relevant Scientific Publications
MicroRNA in Control of Gene Expression: An Overview of Nuclear Functions.
International Journal of Molecular Sciences, 2016.