Funding Portfolio

2018 Grant Recipients

  • Dr. Esther Zito, Mario Negri Institute of Pharmacological Science, Milano, Italy. Ablation of the maladaptive ER stress response improves altered calcium handling and restores diaphragm function in SELENON knock-out mice. Funding: January 2019-December 2020. Co funded with AFM.

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

  • Dr. Ana Ferreiro, Université Paris Diderot/CNRS & Pitié-Salpêtrière Hospital, Paris, France. SEPN1-related myopathy: towards new drug therapies. Funding: May 2018 – May 2020

  • Dr. Francesco Muntoni, University College London, London, UK. The role of modifier genes in a mild MDC1A case associated with a loss-of function mutation. Funding: November 2018 – October 2019

  • Dr. Markus Rüegg, University of Basel, Basel, Switzerland. Efficacy for the treatment of LAMA2 MD using linker proteins after disease onset. Funding: June 2018 –May 2019

  • Dr. Stefano Squarzoni, Institute of Molecular Genetics – National Research Council of Italy (IGM-CNR), Exploring the involvement of COLVI-NG2 axis in the generation of contractures affecting UCMD patients. Funding: June 2018 – May 2020

2016 Grant Recipients

  • Dr. Gisele Bonne, Institute of Myology, Paris, France. Gene Therapy for LMNA CMD. Funding: January 2016 – January 2018

  • Dr. Carsten Bonnemann, National Institutes of Health, Development of Selective Mutation Silencing as a Therapy for the
    Collagen VI Related Dystrophies. Funding: January 2017-December 2018. Co funded with Noelia Foundation.

2015 Grant Recipients

  • Dr. Anne Bang, Sanford-Burnham-Prebys Center, San Diego, CA. High throughput screens to identify small molecules that ameliorate laminopathy phenotypes in patient specific cells. Funding: April 2015 – April 2017. Co-funded with Beat4Life and Andres Marcio Foundation

  • Dr. Antoine Muchir, Institute of Myology, Paris, France. Defects in actin polymerization participate in cardiac contractility in L-CMD. Funding: August 2015-July 2017. Co-funded with Andres Marcio Foundation.

  • Dr. Alan Beggs, Boston Children’s Hospital, Boston, Massachusetts. Zebrafish for Drug Discovery in SEPN1, RYR1, and TTN. Funding: September 2015-September 2016 Co funded with the RYR1 Foundation and Team Titin

  • Dr. Charles Emerson, University of Massachusetts,  Xenograft Models for FKRP Muscular Dystrophy AAV Therapy.  Co-funded with LGMD2I Fund and the Cure LGMD2I Foundation

  • Dr. Ronni Cohn, Sick Kids, Toronto, Canada. Rewriting the Genome: Exploratino of CRISPR/Cas9 Technology in LAMA2-CMD. Funding: May 2015-May 2017

  • Dr. Carsten Bonnemann, NIH, Washington, DC. 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: August 2015-August 2017

  • Dr. Raouf Amin, Cincinnatti Children Hospital. A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy, Funding: August 2015-March 2016

2014 Grant Recipients

  • Dr. Francesco Muntoni, University of College London, London, UK. Expression analysis of miRNAs in serum and muscle samples in LAMA2-deficient Congenital Muscular Dystrophy and their implication as biomarkers. Funding: January 2014-June 2015.

  • Dr. Sweta Girgenrath, Boston University, Boston, MA; Validation of Angiotensin II Inhibitor and Human Growth Hormone in Dyw Mouse Model (LAMA2-CMD). Funding: January 2014-January 2016.

  • Dr. Raouf Amin, Cincinnatti Children Hospital. A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy Funding: August 2014 – December 2014

2013 Grant Recipients

  • Antoine Muchir, PhD.  LMNA Cardiac Discovery: Developing Longitudinal Models in H222P and DELK32 mouse models. (1 year funding)

  • Francesco Muntoni, MD. Expression analysis of miRNAs in serum and muscle samples in LAMA2-deficient Congenital Muscular Dystrophy and their implication as biomarkers. (1 year funding)

  • Sebahattin Cirak, PhD, MD. Deciphering the biochemical function of ISPD and drug discovery (chemical chaperones) for ISPD-related muscular dystrophy. (2 year funding)

  • Sweta Girgenrath, PhD. Inhibition of Angiotensin II signaling in Congenital Muscular Dystrophy Type1A (MDC1A) (2 year funding)

  • Russ Butterfield, PhD. Transcriptome profiling for identification of biomarkers in congenital muscular dystrophy (1 year funding)

2012 Grant Recipients

  • Valerie Allamand, PhD, In vitro and in vivo assessment of PTC suppression strategies for COLVI- myopathies (2 year funding)

  • Alan Beggs, PhD, Zebrafish Models for Drug Discovery in SEPN1, RYR1 and TTN Myopathies (1 year Funding)

  • Glenn Morris and Susan Brown, PhD. Generation and characterization of antibodies to alpha dystroglycan. (Co-Funded with LGMD2I Fund)

  • Dean Burkin, PhD, MDC1A Global Transcriptome, Cell Signaling and Human Laminin Protein Preclinical and Pharmacokinetic/Pharmacodynamics Study (2 year funding)

  • Olga Igoucheva, PhD. Therapeutic Potential of Adult Stem Cells in Congenital Muscular Dystrophies (2 year funding)

  • David Sassoon, PhD Dissecting the role of PWI/Peg3 in the stress response of resident muscle stem cells in laminin alpha 2- deficient muscular dystrophy (1 year funding)

  • Xiao Xiao, PhD, Development of AAV Miniagrin for FKRP-MD Murine and IPS work (1 year funding) (Cofunded with LGMD2I Fund)

  • Kanneboyina Nagaraju, DVM, Characterization of FKRP-MD Mouse Model (co-funding with LGMD2I Fund) (1 year funding)

  • Cellular Dynamics Inc. Development of 2 FKRP IPS and 3 LMNA IPS lines. (Co-funding with LGMD2I Fund)

2011 Grant Recipients

  • Dr. Gisele Bonne, PhD, INSERM, France, “Novel Trans-splicing Mechanism for LMNA related dystrophy”

  • Dr. James Dowling, MD, PhD, University of Michigan, “Zebrafish Models of CMD”

  • Dr. William Cruikshank, PhD, Boston University, “Evaluating the Respiratory System in a CMD Animal Model (Dyw)”

2010 Grant Recipients

  • Dr. Susan Brown, Royal Veterinary College, United Kingdom, “Validation of an Animal Model for Therapeutic Testing In the Dystroglycanopathies” (2 year funding)

  • Dr. Kanneboyina Nagaraju, CNMC, USA, “Validation of Omigapil in LAMA2 Related CMD Animal Model and Endpoint Validation in Col6KI Model” (supplemental funding to CTSA

  • Dr. Valerie Allamand, INSERM, Institute de Myologie, France, “PTC Suppression in a Novel Model of Col6 Myopathy” (2 year funding)

  • Drs. Olga Igoucheva and Mon-li Chu, Thomas Jefferson University, USA, “Therapeutic Potential of Adult Stem Cells for Collagen 6 Muscular Dystrophy” (2 year funding)

  • Dr. Sweta Girgenrath, Boston University, USA, “To Evaluate the Efficacy of RAP-031 Treatment of Dystrophic, Inflammatory and Regenerative Deficiencies in Merosin Deficient Congenital Muscular Dystrophy Animal Model” (1 year funding)

2009 Grant Recipients

  • Dr. Ana Ferreiro, INSERM, France, “Pharmacological Therapy of SEPN1 Related Myopathy: From Ex Vivo Studies to the First Clinical Trial” (1 year funding)

  • Dr. Denis Guttridge, Ohio State University Medical Center, “Elucidating NF-kappa B Function in Congenital Muscular Dystrophy” (2 year funding)

  • Dr. Sweta Girgenrath, Boston University, USA, “Triggering Regeneration and Tackling Degeneration: A Comprehensive Approach for Treating Muscular Dystrophy”

  • Dr. James Collins, Cincinnati Childrens Hospital Medical Center, USA, “Transciptomic and Proteomic Profiling in Blood of Patients with Laminin Alpha 2 Deficiency; A Biomarker Pilot Study” (1 year funding)

  • Dr. Dean Burkin, University of Nevada, USA, “Laminin 111 Protein Therapy for Merosin Deficient Congenital Muscular Dystrophy” (1 year funding)

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