Disease Focus: Muscular Dystrophy


Combination therapy to Enhance Antisense Mediated Exon Skipping for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) affects 1 in every 3,500 boys worldwide. DMD is caused by mutations in the gene encoding dystrophin, a protein key to muscle health. DMD patients are typically weaker than normal by age 3, and with progressive muscle weakness most loose the ability to walk by age 11. DMD progresses to complete […]

Engineered iPSC for therapy of limb girdle muscular dystrophy type 2B

Limb girdle muscular dystrophy type 2B (LGMD 2B) is a form of muscular dystrophy that leads to muscle degeneration and disability. In LGMD 2B, a vital muscle protein is mutated, and its absence leads to progressive degeneration of muscles in the body that are needed for mobility. To create a therapy, we will provide a […]

Combination Therapy to Enhance Antisense Mediated Exon Skipping for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and one of the most common fatal genetic disorders. Approximately one in every 3,500 boys worldwide is affected with DMD. Extrapolating from population based studies, there are over 15,000 people currently living with DMD in the US. DMD is a devastating and incurable muscle-wasting disease […]

Combination therapy to Enhance Antisense Mediated Exon Skipping for Duchenne Muscular Dystrophy

A drug was identified through the use of muscle stem cells that can enhance the effectiveness of exon skipping by antisense oligonucleotides to the DMD gene to restore dystrophin expression and at least partially correct the defect responsible for loss of muscle function in Duchenne. We propose to test the effectiveness of this drug in […]

Phenotypic Analysis of Human ES Cell-Derived Muscle Stem Cells

We study human muscle development, and are actively investigating potential cell-based therapies for the treatment of degenerative muscle diseases, such as muscle dystrophy. This project will define the pathway that muscle stem cells follow as they form new muscle, and identify which muscle stem cells are most useful for therapy. Our approach will be to […]

Stem Cell Therapy for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common and serious form of muscular dystrophy. One out of every 3500 boys is born with the disorder, and it is invariably fatal. Until recently, there was little hope that the widespread muscle degeneration that accompanies this disease could be combated. However, stem cell therapy now offers that […]

Identification of hESC-mediated molecular mechanism that positively regulates the regenerative capacity of post-natal tissues

The tissue regenerative capacity deteriorates with age in animals and in humans, leading to the loss of organ function, which is well exemplified in skeletal muscle, but is poorly understood in molecular terms. Our recent work uncovered that factors produced by human embryonic stem cells have a unique ability to enhance the regenerative responses of […]

Skeletal muscle development from hESC and its in vivo applications in animal models of muscular dystrophy

Embryonic stem cells (ESC) originating from early stage embryos are able to differentiate into any type of cells in the body. The generation of ESC lines from human embryos (hESC) has attracted a lot of dispute among researchers, but raised the hope that one day hESCs can be used in cell replacement therapy for the […]

Purified allogeneic hematopoietic stem cells as a platform for tolerance induction

Blood and immune cells originate and mature in the bone marrow. Bone marrow cells are mixtures of blood cells at different stages of development, and include rare populations of blood-forming stem cells. These stem cells are the only cells capable of generating the blood system for the life of an individual. Bone marrow transplants (BMT) […]

A Novel Microenvironment-Mediated Functional Skeletal Muscle from Human Embryonic Stem Cells and their In Vivo Engraftment

Muscle wasting is a serious clinical problem associated with a number of diseases and health conditions, affecting individuals of all ages. Muscular dystrophy (MD) is a form of muscle wasting disease resulting from genetic mutations. Duchenne muscular dystrophy (DMD) is the most common form of MD that limits motility and life expectancy of children. It […]

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