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Research Portfolio

2022-2024

Grant Recipients

  • Avnika Ruparelia, Integrin Signaling: a Therapeutic Strategy for LAMA2-CMD. Funding: 2023-2024.

  • M. Chiara Manzini, Developing an array of Dystroglycanopathy mutants in zebrafish for convergent high-throughput drug screening. Funding: 2022-2024.

  • Jeanette Erdmann and Franziska Haarich, Further steps toward an RNA-based therapy for COL6-RD. Funding: 2022-2024. Co funded with Muscular Dystrophy Canada.

  • Francesco Saverio Tedesco, Advanced human myo-fibrogenic 3D models for COL6 disease modeling and therapy development. Funding: 2022-2024. Co funded with Muscular Dystrophy Canada.

  • Dean Burkin, Biomarker development using Digital Spatial Profiling for LAMA2-RD. Funding: 2022-2024.

  • Francesco Muntoni, In vivo modulation of modifier genes for LAMA2-RD. Funding: 2023-2024. Co funded with Olivia Bloomfield Foundation and LAMA2 France.

  • Ignacio Perez de Castro, Study of the potential of CRISPR/Cas technology for the treatment of cardiac abnormalities associated with LMNA-CMD. Funding: 2023-2025.

  • Ana Ferreiro, Implementing biomarkers and high-throughput screening to identify and evaluate repurposing drugs for treating SELENON-RM. Funding: 2023-2024. Co funded with Giving Strength.

  • Ester Zito, Inhibition of the endoplasmic reticulum oxidase ERO1 alpha as a strategy to treat SELENON-RM. Funding: 2023-2024. Co funded with Giving Strength.

  • Vittoria Cenni, Targeting Primary Cilium-Related Molecular Pathways to Correct Tendon Cell Defects in Collagen VI Congenital Muscular Dystrophies. Funding: 2023-2025. Co funded with AFM-Telethon.

  • Nicol Voermans,  Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: The LAST STRONG study. Funding: 2023-2025. Co funded with Prinses Beatrix Spier Fonds and Stichting Voor Sara.

  • A. Reghan Foley, Biomarker Discovery Project Using Samples From Patients With COL6 and LAMA2 Related Congenital Muscular Dystrophies. Funding: 2023-2024. Co funded with COL6 Fund, Noelia Foundation, LAMA2 France, ImpulsaT, Voor Sara, and CMD Turkey.

2020-2021

  • Kevin Wright, Synaptic defects in a mouse model of dystroglycanopathy. Funding: 2020-2022.

  • Jeanette Erdmann, First steps towards an RNA-based therapy for COL6-RD using CRISPR interference. Funding: 2020-2022.

  • Dwi Kemaldewi, Therapeutic genetics and disease modeling in LAMA2-CMD. Funding: 2020-2022. Co funded with SAM.

  • Francesco Muntoni, In vivo modulation of modifier genes for LAMA2-RD. Funding: 2021-2022. Co funded with SAM.

  • Anne Bertrand, Optimization of a gene therapy for striated muscle laminopathy. Funding: 2021-2023.

  • Ana Ferreiro and Ester Zito, Biomarkers and therapeutic targets of SEPN1-related myopathy. Funding: 2020-2022.

  • Carsten Bönnemann and Veronique Bolduc, Directed evolution of adeno-associated virus (AAV) capsids for effective beneficial delivery to the muscle fibro-adipogenic progenitors (FAPS). Funding: 2021-2023. Co funded with Noelia Foundation.

2018

  • Stefano Squarzoni, Exploring the involvement of COLVI-NG2 axis in the generation of contractures affecting UCMD patients. Funding: 2018 - 2020.

  • Markus Rüegg, Efficacy for the treatment of LAMA2 MD using linker proteins after disease onset. Funding: 2018 - 2019.

  • Francesco Muntoni. The role of modifier genes in MDC1A (LAMA2) associated with a loss-of function mutation. Funding: 2018 - 2019.

  • Gisèle Bonne. International Identification of genetic modifiers modulating the diseases severity of LMNA-CMD. Funding: 2018-2020. Co funded with the Muscular Dystrophy UK.

  • Ana Ferreiro,  SELENON-related myopathy: towards new drug therapies. Funding: 2018 - 2020.

  • Esther Zito. Ablation of the maladaptive ER stress response improves altered calcium handling and restores diaphragm function in SELENON knock-out mice. Funding: 2019 - 2020. Co funded with AFM-Telethon.

2016

  • Gisèle Bonne and Anne Bertrand, Gene Therapy for LMNA CMD. Funding: 2016 - 2018.

  • Carsten Bönnemann and Veronique Bolduc, Development of Selective Mutation Silencing as a Therapy for the Collagen VI Related Dystrophies. Funding: 2017 - 2018. Co funded with Noelia Foundation.


2015

  • Anne Bang, High throughput screens to identify small molecules that ameliorate laminopathy phenotypes in patient specific cells. Funding: 2015 - 2017. Co-funded with Beat4Life and Andres Marcio Foundation.

  • Antoine Muchir, Defects in actin polymerization participate in cardiac contractility in LMNA-CMD. Funding: 2015 - 2017. Co-funded with Andres Marcio Foundation.

  • Alan Beggs and Behzad Moghadaszadeh, Zebrafish for Drug Discovery. Funding: 2015 - 2016. Co funded with the RYR1 Foundation and Team Titin.

  • Charles Emerson, Xenograft Models for FKRP Muscular Dystrophy AAV Therapy.  Funding: 2015 - 2016. Co-funded with LGMD2I Fund and the Cure LGMD2I Foundation.

  • Ronald Cohn and Dwi Kemaladewi, Rewriting the Genome: Exploration of CRISPR/Cas9 Technology in LAMA2-CMD. Funding: 2015 - 2017.

  • Carsten Bönnemann and A. Reghan Foley, Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO), Funding: 2015 - 2018. Co funded with Santhera Pharmaceuticals and National Institutes of Health.


2014

  • Francesco Muntoni, Expression analysis of miRNAs in serum and muscle samples in LAMA2-CMD and their implication as biomarkers. Funding: 2014 - 2015.

  • Sweta Girgenrath, Validation of Angiotensin II Inhibitor and Human Growth Hormone in LAMA2 Dyw Mouse Model. Funding: 2014 - 2016.

  • Raouf Amin, Hemant Sawnani, Oscar H. Mayer.  A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen 6 or LAMA2 Congenital Muscular Dystrophy, Funding: 2014 - 2017. Co funded with National Institutes of Health, Cincinnatti Children's Hospital Medical Center, Children's Hospital Philadelphia.


2013

  • Antoine Muchir, LMNA Cardiac Discovery: Developing Longitudinal Models in H222P and DELK32 mouse models. Funding: 2013.

  • Francesco Muntoni, Expression analysis of miRNAs in serum and muscle samples in LAMA2-deficient Congenital Muscular Dystrophy and their implication as biomarkers. Funding: 2013.

  • Sebahattin Cirak, Deciphering the biochemical function of ISPD and drug discovery (chemical chaperones) for ISPD-related muscular dystrophy. Funding: 2013-2014.

  • Sweta Girgenrath, Inhibition of Angiotensin II signaling in MDC1A. Funding: 2013-2014.

  • Russel Butterfield, Transcriptome profiling for identification of biomarkers in congenital muscular dystrophy. Funding: 2013.


2012

  • Valérie Allamand. In vitro and in vivo assessment of PTC suppression strategies for COL6-myopathies. Funding: 2012-2013.

  • Alan Beggs and Behzad Moghadaszadeh, Zebrafish Models for Drug Discovery. Funding: 2012. Co funded with the RYR1 Foundation and Team Titin.

  • Glenn Morris and Susan Brown, Generation and characterization of antibodies to alpha dystroglycan. Funding: 2012. Co funded with LGMD2I Fund.

  • Dean Burkin, MDC1A Global Transcriptome, Cell Signaling and Human Laminin Protein Preclinical and Pharmacokinetic/Pharmacodynamics Study. Funding: 2012-2013.

  • Olga Igoucheva, Therapeutic Potential of Adult Stem Cells in Congenital Muscular Dystrophies. Funding: 2012-2013.

  • David Sassoon, Dissecting the role of PWI/PEG3 in the stress response of resident muscle stem cells in LAMA2-CMD. Funding: 2012.

  • Xiao Xiao, Development of AAV Miniagrin for FKRP-MD Murine and IPS work. 2012. Co funded with LGMD2I Fund.

  • Kanneboyina Nagaraju, Characterization of FKRP-MD Mouse Model. Funding: 2012. Co funded with LGMD2I Fund.

  • Cellular Dynamics/Fujifilm, Development of FKRP and LMNA iPSC lines for research. Funding: 2012. Co funded with LGMD2I Fund.


2011

  • Gisèle Bonne, Novel Trans-splicing Mechanism for LMNA related dystrophy. Funding: 2011-2012.

  • James Dowling, Zebrafish Models of CMD. Funding: 2011-2012

  • William Cruikshank, Evaluating the Respiratory System in a CMD Animal Model (Dyw). Funding: 2011-2012.

2010

  • Susan Brown, Validation of an Animal Model for Therapeutic Testing In the Dystroglycanopathies. Funding: 2010-2011.

  • Kanneboyina Nagaraju, Validation of Omigapil in LAMA2 Related CMD Animal Model and Endpoint Validation in Col6KI Model. Funding: 2010.

  • Valérie Allamand, PTC Suppression in a Novel Model of Col6 Myopathy. Funding: 2010-2011.

  • Olga Igoucheva and Mon-li Chu, Therapeutic Potential of Adult Stem Cells for Collagen 6 Muscular Dystrophy. FUnding: 2010 - 2011.
  • Sweta Girgenrath, To Evaluate the Efficacy of RAP-031 Treatment of Dystrophic, Inflammatory and Regenerative Deficiencies in Merosin Deficient Congenital Muscular Dystrophy Animal Model. Funding: 2010.

2009

  • Ana Ferreiro, Pharmacological Therapy of SEPN1 Related Myopathy: From Ex Vivo Studies to the First Clinical Trial. Funding: 2009

  • Denis Guttridge, Elucidating NF-kappa B Function in Congenital Muscular Dystrophy. Funding: 2009-2010

  • Sweta Girgenrath, Triggering Regeneration and Tackling Degeneration: A Comprehensive Approach for Treating Muscular Dystrophy Funding: 2009-2010.

  • James Collins, Transciptomic and Proteomic Profiling in Blood of Patients with Laminin Alpha 2 Deficiency; A Biomarker Pilot Study. Funding: 2009.

  • Dean Burkin, Laminin 111 Protein Therapy for Merosin Deficient Congenital Muscular Dystrophy. Funding: 2009.

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