About: JP

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 “LGMD2I zebrafish characterization and drug screening”

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 “Biomarkers discovery in 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 “Stem Cell therapy 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 “Assessment of Muscle Function in mouse model of LGMD2I”

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 “Characterization of FKRP mutant mouse model”