We have pioneered techniques for reprogramming cells collected from human urine to produce induced pluripotent stem cells (iPSCs), and we use such cells to study disease mechanisms for a variety of heritable human diseases. In some cases, we employ CRISPR-mediated gene editing to introduce disease-associated mutations into cells from non-diseased individuals. In other cases, CRISPR gene editing may be used to correct gene mutations in iPSCs produced from diseased individuals. We then differentiate these iPSCs into a variety of differentiated cell types, using protocols that mimic signals that control cell differentiation during normal embryonic development. For our various projects, we produce the following kinds of cells from iPSCs:
- Skeletal muscle
- Muscle spindle intrafusal fibers
- Cardiac muscle
- Motor neurons
- Cortical neurons
- Sensory neurons
- Astrocytes
In some cases, these differentiated cells are employed to produce three-dimensional engineered tissues. Diseases we presently study using monolayer cultures or engineered tissues produced from iPSCs include:
- Duchene muscular dystrophy
- X-linked myotubular myopathy
- Nemaline myopathy
- Arthrogryposis
- Charcot-Marie Tooth disease
- ALS
- Alzheimer’s disease