Human Stem Cell Use: iPS Cell
3D Modeling of Retina using Polymer Scaffolds for Understanding Disease Pathogenesis
Inherited retinal degenerations result in visual loss in patients as early as in their adolescence. Retinitis Pigmentosa includes a group of such degenerations which run in families and can result in legal blindness by 40 years of age. Even though we know by now a number of gene mutations which can cause these disorders, we […]
Investigation of the role of O-GlcNAcylation in SOX2 function during reprogramming
Induced pluripotent stem cells (iPSCs) are a potential source of material for cell replacement therapies. Thus, achieving maximal efficiency of reprogramming will be important for cellular medicine. In this submission we propose to test whether manipulating the mammalian glucose sensing pathway. The enzyme OGT is part of the glucose-sensing pathway and is necessary in pluripotent […]
Induction of Pluripotent Stem Cell-Derived Pacemaking Cells
Currently, over 350,000 patients per year with abnormal heart rhythm receive electronic pacemakers to restore their normal heart beat. Electronic pacemakers do not respond to the need for changing heart rate in situations such as exercise and have limited battery life, which can be resolved with biopacemakers. In this proposed project, we will examine methods […]
Studying Arrhythmogenic Right Ventricular Dysplasia with patient-specific iPS cells
Most heart conditions leading to sudden death or impaired pumping heart functions in the young people (
Transcriptional regulation of pluripotency in human embryonic stem cells
All of the diverse cells in the human body contain the same genetic information, and originally arose from a single cell, a fertilized egg. Embryogenesis is a result of cell division followed by differential gene expression, to selectively activate only the genes needed for development of each specialized cell type. By understanding the multiple gene […]
Common molecular mechanisms in neurodegenerative diseases using patient based iPSC neurons
A major medical problem in CA is the growing population of individuals with neurodegenerative diseases, including Parkinson’s (PD) and Huntington’s (HD) disease. These diseases affect millions of people, sometimes during the prime of their lives, and lead to total incapacitation and ultimately death. No treatment blocks the progression of neurodegeneration. We propose to conduct fundamental […]
Energy metabolism and aging pathways in human stem cell reprogramming and differentiation
The discovery that human skin cells can be reprogrammed into stem cells holds great promise for therapies for degenerative diseases. As many patients in need of regenerative medicine therapies are middle-aged or older, identifying strategies to improve the reprogramming efficiency and quality of cells from aging donors will be crucial in harnessing the full potential […]
Stem cell models to analyze the role of mutated C9ORF72 in neurodegeneration
Amyotrophic lateral sclerosis (ALS) is an idiopathic adult-onset degenerative disease characterized by progressive weakness from loss of upper and lower motor neurons. Onset is insidious, progression is essentially linear, and death occurs within 3-5 years in 90% of patients. In the US, 5,000 deaths occur per year and in the world, 100,000. In October, 2011, […]
The HD iPSC Consortium: Repeat Length Dependent Phenotypes for Assay Development
Identifying Drugs for Alzheimer’s Disease with Human Neurons Made From Human IPS cells
We propose to discover new drug candidates for Alzheimer’s Disease (AD), which is common, fatal, and for which no effective disease-modifying drugs are available. Because no effective AD treatment is available or imminent, we propose to discover novel candidates by screening purified human brain cells made from human reprogrammed stem cells (human IPS cells or […]