Awarded Grants

LGMD2I zebrafish characterization and drug screening

Dr. Louis Kunkel Boston Children’s Hospital (Boston, MA)   Project Summary: Zebrafish are good model systems to study human diseases and perform drug screening (cheaper and faster than mice). This grant will support the characterization and study of the FKRP zebrafish model. The zebrafish model containing FKRP mutations that mimic the human disease will be  Continue Reading »

Biomarkers discovery in LGMD2I

Drs. Sebahattin Cirak and Yetrib Hathout Children’s National Medical Center (Washington, DC)   Project Summary: Surrogate biomarkers are needed to predict clinical and biochemical outcomes to guide clinical trials and monitor treatment. This project will analyze plasma samples from LGMD2I patients and compare them with samples from patients with other sub-types of dystroglycanopathies and with  Continue Reading »

Stem Cell therapy in mouse model of LGMD2I

Drs. Casey Childers & David Mack University of Washington (Seattle, WA)   Project Summary: The objective of this project is to test the efficacy of stem cell therapy in improving muscle function of the mouse model of LGMD2I. Induced Pluripotent Stem (iPS) cells derived from normal control mice will be induced to become muscle progenitor  Continue Reading »

Assessment of Muscle Function in mouse model of LGMD2I

Dr. Dan Rodgers Washington State University (Pullman, WA)   Project Summary: The objective of this project is to characterize exercise and cardiac performance as well as muscle contractile properties of the FKRP P448L mutant mouse model. These studies will establish functional baselines for assessing drug efficacy and disease pathology in this mouse model that can  Continue Reading »

Characterization of FKRP mutant mouse model

Dr. Kanneboyina Nagaraju Children’s National Medical Center (Washington, DC)   Project Summary: The goal of this study is to characterize the phenotype of a limb-girdle muscular dystrophy 2I (LGMD2I) model FKRP-P448L neo- mice, developed by Dr Qi Lu, using standard functional and behavioral tests performed at CNMC’s preclinical drug testing facility. The study will perform  Continue Reading »

Genetic correction of patient-specific LGMD2I iPS cells and the regenerative potential of their skeletal muscle derivatives

Dr. Rita Perlingeiro University of Minnesota (Minneapolis, MN)   Project Summary: This grant will support a stem-cell therapy project using genetically-corrected LGMD2I patient cells. In this project, induced pluripotent stem cells (iPS cells) from LGMD2I patients will first be corrected for their genetic defect using novel recombinant DNA techniques. Corrected cells will be then induced  Continue Reading »

Discovery of chemical chaperones for the treatment of FKRP-related limb girdle muscular dystrophy 2I

Dr. Sebahattin Cirak Children’s National Medical Center (Washington, DC)   Project Summary: This grant supports drug screening on mutant forms of FKRP, in the search for compounds that restore normal protein function. A library of chemical chaperones will be tested for their ability to stabilize and restore protein folding in FKRP mutated forms. The project  Continue Reading »

Development and characterization of novel zebrafish models of dystroglycanopathies

Dr. James Dowling University of Michigan (Ann Arbor, MI)   Project Summary:   This grant will support the development and characterization of a stable FKRP zebrafish model. After characterization, the model will be used for screening of potential drug candidates. Another zebrafish model of dystroglycanopathy (Pomt2 deficiency) will be tested in parallel to the FKRP  Continue Reading »

Generation of a monoclonal antibody against FKRP

Dr. Isabelle Richard Généthon (Evry, France)   Project summary: This grant will support the generation of a monoclonal antibody recognizing both the mouse and human forms of FKRP. Once produced, this antibody will be made available to the scientific community.

Generation and characterization of antibodies to alpha-dystroglycan

Dr. Susan Brown Royal Veterinary College (London UK) Dr. Glenn Morris RJAH Orthopaedic Hospital Trust (Oswestry, UK)   Project summary: This grant will support the development of antibodies against different forms of alpha-dystroglycan. Different approaches will be used to generate antibodies that recognize normal and disease forms of alpha-dystroglycan. The grant will support work done  Continue Reading »

Development of dystroglycanopathy patient specific cell based assays for drug screening

Dr. Anne Bang Sanford-Burnham Medical Research Institute (La Jolla, CA, USA)   Project summary: This grant will support the development of patient-specific cell lines to be used for drug screening. Skin cells from dystroglycanopathy patients (with different FKRP mutations, or with mutations in POMT1, POMT2, POMGnT or Fukutin genes) will be used to generate several  Continue Reading »

Development of Soluble mini-Agrin as a Treatment for Dystroglycanopathies

Dr. Jasbir Seehra Achelois Biosciences (Lexington, MA, USA)   Project summary: This project will test a novel recombinant protein, called Mini-Agrin, as a treatment for dystroglycanopathies. The project is split into 2 phases: the initial phase will test whether mini-agrin can overcome the defect in alpha-dystroglycan caused by FKRP mutations using cell lines. If this  Continue Reading »