Gene-based Therapeutic Platforms

X-Reactivation

Publications

Przanowski P, Wasko U, Zheng Z, Yu J, Sherman R, Zhu LJ, McConnell MJ, Tushir-Singh J, Green MR, Bhatnagar S. 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

Powers S*, Lou S, Nardini S, Likhite S, Sierra-Delgado JA, Baird M, Roussel F, Kaleem A, Schwartz M, Ray S, Bhatnagar S, Meyer K. 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

Grimm, NB, Lee, JT. Selective Xi reactivation and alternative methods to restore MECP2 function in Rett syndrome. Trends in Genetics, 2022.

Vacca M, Della Ragione F, Scalabrì F, D'Esposito M. X inactivation and reactivation in X-linked diseases. Seminars in Cell and Developmental Biology, 2016.

Gene Replacement

Publications

Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-dose gene-replacement therapy for Spinal Muscular Atrophy The New England Journal of Medicine, 2017.

Posters & Presentations

Sierra-Delgado JA, Likhite S, McGovern V, Huffenberger A, Hicks AN, Holbrook SE, Nizzardo M, Dennys-Rivers C, Ray S, Corti S, Burghes A, Arnold WD, Cox G, Meyer K. 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.

Sierra-Delgado JA, Likhite S, McGovern V, Huffenberger A, Hicks AN, Holbrook SE, Nizzardo M, Dennys-Rivers C, Ray S, Corti S, Burghes A, Arnold WD, Cox G, Meyer K. 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

Saladini M, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S. Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights. Journal of Cellular and Molecular Medicine, 2020.

Nizzardo M, Simone C, Rizzo F, Salani S, Dametti S, Rinchetti P, Del Bo R, Foust K, Kaspar BK, Bresolin N, Comi GP, Corti S. Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model Science Advances, 2015.

Vectorized Exon Skipping

Relevant Scientific Publications

Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. 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

Kuo CC, Hänzelmann S, Sentürk Cetin N, Frank S, Zajzon B, Derks JP, Akhade VS, Ahuja G, Kanduri C, Grummt I, Kurian L, Costa IG. Detection of RNA-DNA binding sites in long noncoding RNAs. Nucleic Acids Research, 2019.

Catalanotto C, Cogoni C, Zardo G. MicroRNA in Control of Gene Expression: An Overview of Nuclear Functions. International Journal of Molecular Sciences, 2016.