Triplet Repeat Instability in Human iPSCs
Over twenty human genetic diseases are caused by expansion of simple DNA sequences composed of repeats of three nucleotides (such as CAG, CTG, CGG and GAA) within essential genes. These…
Neural and general splicing factors control self-renewal, neural survival and differentiation
Human embryonic and patient-specific induced pluripotent stem cells have the remarkable capacity to differentiate into many cell-types, including neurons, thus enabling the modeling of human neurological diseases in vitro, and…
Elucidating Molecular Basis of Hypertrophic Cardiomyopathy with Human Induced Pluripotent Stem Cells
Familial hypertrophic cardiomyopathy (HCM) is the leading cause of sudden cardiac death in young people, including trained athletes, and is the most common inherited heart defect. Until now, studies in…
Generation and characterization of corticospinal neurons from human embryonic stem cells
A major goal of stem cell research is to generate various functional human cell types that can be used to better understand how these cells work and to use them…
Molecular Mechanisms Underlying Human Cardiac Cell Junction Maturation and Disease Using Human iPSC
Heart disease is the number one cause of death and disability in California and in the United States. Especially devastating is Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), an inherited form of…
Cellular tools to study brain diseases affecting synaptic transmission
There is a group of brain diseases that are caused by functional abnormalities. The brains of patients afflicted with these diseases which include autism spectrum disorders, schizophrenia, depression, and mania…
Editing of Parkinson’s disease mutation in patient-derived iPSCs by zinc-finger nucleases
The goal of this proposal is to establish a novel research tool to explore the molecular basis of Parkinson’s disease (PD) - a critical step toward the development of new…
Robust generation of induced pluripotent stem cells by a potent set of engineered factors
The recent discovery of iPSC (induced Pluripotent Stem Cell) technology marks a promising breakthrough in regenerative medicine. The beauty of the technology is its ability to convert adult mature cells…
Developing a method for rapid identification of high-quality disease specific hIPSC lines
Elucidating how genetic variation contributes to disease susceptibility and drug response requires human Induced Pluripotent Stem Cell (hIPSC) lines from many human patients. Yet, current methods of hIPSC generation are…
Use of hiPSCs to develop lead compounds for the treatment of genetic diseases
This study will use Ataxia-Telangiectasia (A-T), an early-onset inherited neurodegenerative disease of children, as a model to study the mechanisms leading to cerebellar neurodegeneration and to develop a drug that…
