Project Objective: Tool/Resources/Bottleneck
CIRM Tissue Collection for Neurodevelopmental Disabilities
Most children who go to the clinic with brain disorders have symptoms combining autism, cerebral palsy and epilepsy, suggesting underlying and shared mechanisms of brain dysfunction in these conditions. Such disorders affect 4-6% of the population with life-long disease, and account for about 10% of health care expenditures in the US. Genetic studies have pointed […]
Generation of fibroblast cell lines in patients with common blinding eye diseases
Age-related macular degeneration (AMD), primary open-angle glaucoma (POAG), and proliferative diabetic retinopathy (PDR) are the major causes of irreversible vision loss worldwide. Although the exact causes and mechanisms of these diseases are not completely understood, it is known that genetic and environmental factors contribute to the development of these diseases. Recent scientific advances have enabled […]
Tissue Collection for Accelerating iPSC Research in Cardiovascular Diseases
Heart failure is a very common and chronic condition defined by an inability of the heart to pump blood effectively. Over half of cases of heart failure are caused by a condition called dilated cardiomyopathy, which involves dilation of the heart cavity and weakening of the muscle. Importantly, many cases of this disease do not […]
Collection of skin biopsies to prepare fibroblasts from patients with Alzheimer’s disease and cognitively healthy elderly controls
Alzheimer’s Disease (AD), the most common form of dementia in the elderly, affects over 5 million Americans. There are no treatments to slow progression or prevent AD. This reflects limitations in knowledge of mechanisms underlying AD, and in tools and models for early development and testing of treatment. Genetic breakthroughs related to early onset AD […]
Using human induced pluripotent stem cells to improve our understanding of Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis (IPF) is a progressive and generally fatal disease that causes scarring of the lungs and therefore an inability to breathe. Its true prevalence is unknown, as it may go unrecognized for many years, but it is generally thought to affect more than 200,000 people in the USA and is five times more […]
Human endothelial reprogramming for hematopoietic stem cell therapy.
The current roadblocks to hematopoietic stem cell (HSC) therapies include the rarity of matched donors for bone marrow transplant, engraftment failures, common shortages of donated blood, and the inability to expand HSCs ex vivo in large numbers. These major obstacles would cease to exist if an extensive, bankable, inexhaustible, and patient-matched supply of blood were […]
Modeling disease in human embryonic stem cells using new genetic tools
The use of stem cells or stem cell-derived cells to treat disease is one important goal of stem cell research. A second, important use for stem cells is the creation of cellular models of human development and disease, critical for uncovering the molecular roots of illness and testing new drugs. However, a major limitation in […]
The HD iPSC Consortium: Repeat Length Dependent Phenotypes for Assay Development
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 humans with HCM have been limited by a variety of factors, including variable environmental stimuli which may differ between individuals (e.g., diet, exercise, and lifestyle), […]
Homologous recombination in human pluripotent stem cells using adeno-associated virus.
Since their discovery in 1998, human embryonic stem cells (hESCs) have been considered to hold great potential for the treatment of many currently incurable diseases. Possibly the most exciting application of hESC in the clinic is in the arena of regenerative medicine where hESC-derived cell populations are used to replace diseased, damaged or dead tissues. […]