Contact Information

Call us at: (614)355.2893

Fax us at: (614)355.5247

Center for Gene TherapyAbigail Wexner Research Institute700 Children’s DriveColumbus, Ohio 43205 (map)

Learn more about Scott Harper

Biography

Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper is currently a standing member of the National Institutes of Health (NIH) Neurological Sciences and Disorders B (NSD-B) study section and a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA). He also serves on three committees of the American Society of Gene and Cell Therapy (ASGCT) and is the chief scientific advisor at Armatus Bio. Dr. Harper earned his doctorate degree in Cellular and Molecular Biology from the University of Michigan Medical School, where he worked in the lab of Jeff Chamberlain, MD, to develop the first generation of micro-dystrophin gene therapies for Duchenne Muscular Dystrophy (DMD). He then completed postdoctoral training in the lab of Beverly Davidson, PhD, at the University of Iowa, where he developed RNAi-based gene therapies to treat dominant neurodegenerative diseases. Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat neuromuscular and neurological disorders, including muscular dystrophy (FSHD, LGMD1A), peripheral neuropathy (CMT1A, CMT2D, CMT4B3) and dominant epilepsy. His lab has also focused on developing models and studying the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).

Academic and Clinical Areas

Center for Gene Therapy

Principal Investigator

Neurology

Principal Investigator

Neuromuscular Disorders

Principal Investigator

Primary Department

Center for Gene Therapy

Research

Lab(s)

Center for Gene Therapy

Publications

                  Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;  

                


                  Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;  

                


                  Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

                


                  Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

                


                  Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

                


                  Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

                


                  Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

                


                  Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

                


                  Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

                


                  Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

                


                  Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;  

                


                  Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3: 

                


                  Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

                


                  Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

View More Publications

Professional Experience

2013 - Present Department of Pediatrics, The Ohio State University College of Medicine, Associate Professor

Contact Information

Center for Gene Therapy

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)

Contact Information

Call us at: (614)355.2893

Fax us at: (614)355.5247

Center for Gene TherapyAbigail Wexner Research Institute700 Children’s DriveColumbus, Ohio 43205 (map)

Learn more about Scott Harper

Biography

Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper is currently a standing member of the National Institutes of Health (NIH) Neurological Sciences and Disorders B (NSD-B) study section and a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA). He also serves on three committees of the American Society of Gene and Cell Therapy (ASGCT) and is the chief scientific advisor at Armatus Bio. Dr. Harper earned his doctorate degree in Cellular and Molecular Biology from the University of Michigan Medical School, where he worked in the lab of Jeff Chamberlain, MD, to develop the first generation of micro-dystrophin gene therapies for Duchenne Muscular Dystrophy (DMD). He then completed postdoctoral training in the lab of Beverly Davidson, PhD, at the University of Iowa, where he developed RNAi-based gene therapies to treat dominant neurodegenerative diseases. Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat neuromuscular and neurological disorders, including muscular dystrophy (FSHD, LGMD1A), peripheral neuropathy (CMT1A, CMT2D, CMT4B3) and dominant epilepsy. His lab has also focused on developing models and studying the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).

Academic and Clinical Areas

Center for Gene Therapy

Principal Investigator

Neurology

Principal Investigator

Neuromuscular Disorders

Principal Investigator

Primary Department

Center for Gene Therapy

Research

Lab(s)

Center for Gene Therapy

Publications

                  Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;  

                


                  Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;  

                


                  Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

                


                  Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

                


                  Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

                


                  Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

                


                  Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

                


                  Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

                


                  Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

                


                  Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

                


                  Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;  

                


                  Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3: 

                


                  Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

                


                  Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

View More Publications

Professional Experience

2013 - Present Department of Pediatrics, The Ohio State University College of Medicine, Associate Professor

Contact Information

Center for Gene Therapy

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)

Contact Information

Call us at: (614)355.2893

Fax us at: (614)355.5247

Center for Gene TherapyAbigail Wexner Research Institute700 Children’s DriveColumbus, Ohio 43205 (map)

Learn more about Scott Harper

Contact Information

  • Call us at:
  • (614)355.2893
  • Fax us at:
  • (614)355.5247
  • Center for Gene TherapyAbigail Wexner Research Institute700 Children’s DriveColumbus, Ohio 43205 (map)

Learn more about Scott Harper

Biography

Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper is currently a standing member of the National Institutes of Health (NIH) Neurological Sciences and Disorders B (NSD-B) study section and a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA). He also serves on three committees of the American Society of Gene and Cell Therapy (ASGCT) and is the chief scientific advisor at Armatus Bio. Dr. Harper earned his doctorate degree in Cellular and Molecular Biology from the University of Michigan Medical School, where he worked in the lab of Jeff Chamberlain, MD, to develop the first generation of micro-dystrophin gene therapies for Duchenne Muscular Dystrophy (DMD). He then completed postdoctoral training in the lab of Beverly Davidson, PhD, at the University of Iowa, where he developed RNAi-based gene therapies to treat dominant neurodegenerative diseases. Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat neuromuscular and neurological disorders, including muscular dystrophy (FSHD, LGMD1A), peripheral neuropathy (CMT1A, CMT2D, CMT4B3) and dominant epilepsy. His lab has also focused on developing models and studying the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).

Biography

Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper is currently a standing member of the National Institutes of Health (NIH) Neurological Sciences and Disorders B (NSD-B) study section and a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA). He also serves on three committees of the American Society of Gene and Cell Therapy (ASGCT) and is the chief scientific advisor at Armatus Bio. Dr. Harper earned his doctorate degree in Cellular and Molecular Biology from the University of Michigan Medical School, where he worked in the lab of Jeff Chamberlain, MD, to develop the first generation of micro-dystrophin gene therapies for Duchenne Muscular Dystrophy (DMD). He then completed postdoctoral training in the lab of Beverly Davidson, PhD, at the University of Iowa, where he developed RNAi-based gene therapies to treat dominant neurodegenerative diseases. Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat neuromuscular and neurological disorders, including muscular dystrophy (FSHD, LGMD1A), peripheral neuropathy (CMT1A, CMT2D, CMT4B3) and dominant epilepsy. His lab has also focused on developing models and studying the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).

Biography

Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper is currently a standing member of the National Institutes of Health (NIH) Neurological Sciences and Disorders B (NSD-B) study section and a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA). He also serves on three committees of the American Society of Gene and Cell Therapy (ASGCT) and is the chief scientific advisor at Armatus Bio. Dr. Harper earned his doctorate degree in Cellular and Molecular Biology from the University of Michigan Medical School, where he worked in the lab of Jeff Chamberlain, MD, to develop the first generation of micro-dystrophin gene therapies for Duchenne Muscular Dystrophy (DMD). He then completed postdoctoral training in the lab of Beverly Davidson, PhD, at the University of Iowa, where he developed RNAi-based gene therapies to treat dominant neurodegenerative diseases. Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat neuromuscular and neurological disorders, including muscular dystrophy (FSHD, LGMD1A), peripheral neuropathy (CMT1A, CMT2D, CMT4B3) and dominant epilepsy. His lab has also focused on developing models and studying the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).

Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper is currently a standing member of the National Institutes of Health (NIH) Neurological Sciences and Disorders B (NSD-B) study section and a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA). He also serves on three committees of the American Society of Gene and Cell Therapy (ASGCT) and is the chief scientific advisor at Armatus Bio. Dr. Harper earned his doctorate degree in Cellular and Molecular Biology from the University of Michigan Medical School, where he worked in the lab of Jeff Chamberlain, MD, to develop the first generation of micro-dystrophin gene therapies for Duchenne Muscular Dystrophy (DMD). He then completed postdoctoral training in the lab of Beverly Davidson, PhD, at the University of Iowa, where he developed RNAi-based gene therapies to treat dominant neurodegenerative diseases. Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat neuromuscular and neurological disorders, including muscular dystrophy (FSHD, LGMD1A), peripheral neuropathy (CMT1A, CMT2D, CMT4B3) and dominant epilepsy. His lab has also focused on developing models and studying the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).

Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital and a professor of Pediatrics at the Ohio State University College of Medicine. Dr. Harper is currently a standing member of the National Institutes of Health (NIH) Neurological Sciences and Disorders B (NSD-B) study section and a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA). He also serves on three committees of the American Society of Gene and Cell Therapy (ASGCT) and is the chief scientific advisor at Armatus Bio.

Dr. Harper earned his doctorate degree in Cellular and Molecular Biology from the University of Michigan Medical School, where he worked in the lab of Jeff Chamberlain, MD, to develop the first generation of micro-dystrophin gene therapies for Duchenne Muscular Dystrophy (DMD). He then completed postdoctoral training in the lab of Beverly Davidson, PhD, at the University of Iowa, where he developed RNAi-based gene therapies to treat dominant neurodegenerative diseases.

Dr. Harper’s primary research focus at Nationwide Children’s has been developing adeno-associated virus (AAV) based gene therapies to treat neuromuscular and neurological disorders, including muscular dystrophy (FSHD, LGMD1A), peripheral neuropathy (CMT1A, CMT2D, CMT4B3) and dominant epilepsy. His lab has also focused on developing models and studying the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD).

Academic and Clinical Areas

Center for Gene Therapy

Principal Investigator

Neurology

Principal Investigator

Neuromuscular Disorders

Principal Investigator

Primary Department

Center for Gene Therapy

Academic and Clinical Areas

Center for Gene Therapy

Principal Investigator

Neurology

Principal Investigator

Neuromuscular Disorders

Principal Investigator

Primary Department

Center for Gene Therapy

Academic and Clinical Areas

Center for Gene Therapy

Principal Investigator

Neurology

Principal Investigator

Neuromuscular Disorders

Principal Investigator

Primary Department

Center for Gene Therapy

Center for Gene Therapy

Principal Investigator

Neurology

Principal Investigator

Neuromuscular Disorders

Principal Investigator

Primary Department

Center for Gene Therapy

  • Center for Gene Therapy
  • Principal Investigator
  • Neurology
  • Principal Investigator
  • Neuromuscular Disorders
  • Principal Investigator
  • Primary Department
  • Center for Gene Therapy

Research

Lab(s)

Center for Gene Therapy

Publications

                  Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;  

                


                  Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;  

                


                  Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

                


                  Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

                


                  Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

                


                  Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

                


                  Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

                


                  Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

                


                  Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

                


                  Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

                


                  Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;  

                


                  Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3: 

                


                  Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

                


                  Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

View More Publications

Research

Lab(s)

Center for Gene Therapy

Publications

                  Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;  

                


                  Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;  

                


                  Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

                


                  Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

                


                  Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

                


                  Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

                


                  Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

                


                  Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

                


                  Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

                


                  Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

                


                  Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;  

                


                  Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3: 

                


                  Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

                


                  Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

View More Publications

Research

Lab(s)

Center for Gene Therapy

Publications

                  Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;  

                


                  Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;  

                


                  Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

                


                  Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

                


                  Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

                


                  Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

                


                  Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

                


                  Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

                


                  Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

                


                  Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

                


                  Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;  

                


                  Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3: 

                


                  Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

                


                  Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

View More Publications

Lab(s)

Center for Gene Therapy

Publications

                  Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;  

                


                  Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;  

                


                  Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

                


                  Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

                


                  Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

                


                  Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

                


                  Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

                


                  Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

                


                  Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

                


                  Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

                


                  Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;  

                


                  Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3: 

                


                  Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

                


                  Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

View More Publications

Lab(s)

Center for Gene Therapy

                  Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;  

                


                  Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;  

                


                  Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

                


                  Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

                


                  Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

                


                  Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

                


                  Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

                


                  Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

                


                  Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

                


                  Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

                


                  Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;  

                


                  Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3: 

                


                  Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

                


                  Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

View More Publications

Lab(s)

Center for Gene Therapy

  • Center for Gene Therapy

  • Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Jun 3;

  • Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA. A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. J Clin Invest. 2022 May 17;

  • Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 Jan 17; 12: 1.

  • Saad NY, Al-Kharsan M, Garwick-Coppens SE, Chermahini GA, Harper MA, Palo A, Boudreau RL, Harper SQ. Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy. Nat Commun. 2021 Dec 8; 12: 7128.

  • Kastenschmidt JM, Coulis G, Farahat PK, Pham P, Rios R, Cristal TT, Mannaa AH, Ayer RE, Yahia R, Deshpande AA, Hughes BS, Savage AK, Giesige CR, Harper SQ, Locksley RM, Mozaffar T, Villalta SA. A stromal progenitor and ILC2 niche promotes muscle eosinophilia and fibrosis-associated gene expression. Cell Rep. 2021 Apr 13; 35: 108997.

  • Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5; 23: 476-486.

  • Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8; 10: 36.

  • Aimiuwu OV, Fowler AM, Sah M, Teoh JJ, Kanber A, Pyne NK, Petri S, Rosenthal-Weiss C, Yang M, Harper SQ, Frankel WN. RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model. Mol Ther. 2020 Jul 8; 28: 1706-1716.

  • Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1; 1732: 146683.

  • Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2; 129: 5568-5583.

  • Amini-Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Jun 17;

  • Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15; 3:

  • Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16; 8: 121-130.

  • Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel). 2017 Mar 3; 8:

Professional Experience

2013 - Present Department of Pediatrics, The Ohio State University College of Medicine, Associate Professor

Professional Experience

2013 - Present Department of Pediatrics, The Ohio State University College of Medicine, Associate Professor

Professional Experience

2013 - Present Department of Pediatrics, The Ohio State University College of Medicine, Associate Professor

2013 - Present Department of Pediatrics, The Ohio State University College of Medicine, Associate Professor

2013 - Present Department of Pediatrics, The Ohio State University College of Medicine, Associate Professor

Contact Information

Center for Gene Therapy

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)

Contact Information

Center for Gene Therapy

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)

Contact Information

Center for Gene Therapy

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)

Center for Gene Therapy

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)

Call us at: (614)355.2893

Fax us at: (614)355.5247

                    Abigail Wexner Research Institute700 Children's DriveColumbus, Ohio 43205 (map)
  • Call us at:
  • (614)355.2893
  • Fax us at:
  • (614)355.5247
  • Abigail Wexner Research Institute700 Children’s DriveColumbus, Ohio 43205 (map)