Disease Focus: Rett's Syndrome

Defining the source of dysfunction in monogenic Intellectual Disability Syndrome neurons

Research Objective This study will use pluripotent stem cells derived from patients to determine why Intellectual Disabilities caused by mutations in chromatin regulatory proteins leads to neuronal defects. Impact Our study of intellectual disability syndromes will determine links between mutations and neuronal dysfunction Major Proposed Activities Our study of intellectual disability syndromes will determine links […]

Development of a stem-cell based approach to interpret global effects of genetic variants contributing to neurodevelopmental disease risk

Research Objective We are developing a strategy to characterize the disease-relevance of hundreds of mutations across diverse genetic backgrounds using stem cells Impact Understanding how mutations impact cellular function can identify treatments for genetic diseases, but currently less than 1% of identified mutations have a known function. Major Proposed Activities Identify optimal conditions for SNV […]

A drug-screening platform for autism spectrum disorders using human astrocytes

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases that affect about 1% of children in the United States. Such diseases are mainly characterized by deficits in verbal communication, impaired social interaction, and limited and repetitive interests and behavior. The causes and best treatments remain uncertain. One of the major impediments to ASD research is the […]

Studying neurotransmission of normal and diseased human ES cell-derived neurons in vivo

Stem cells, including human embryonic stem cells, provide extraordinary new opportunities to model human diseases and may serve as platforms for drug screening and validation. Especially with the ever-improving effective and safe methodologies to produce genetically identical human induced pluripotent stem cells (iPSCs), increasing number of patient-specific iPSCs will be generated, which will enormously facilitate […]

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 and other psychiatric diseases have a normal appearance and show no structural changes. Neurons, the cellular units of the brain, function by making connections (or […]

In vitro reprogramming of mouse and human somatic cells to an embryonic state

Embryonic stem (ES) cells are remarkable cells in that they can replicate themselves indefinitely and have the potential to turn into all possible cell type of the body under appropriate environmental conditions. These characteristics make ES cells a unique tool to study development in the culture dish and put them at center stage for regenerative […]

Development of Induced Pluripotent Stem Cells for Modeling Human Disease

Human embryonic stem cells (hESC) hold great promise in regenerative medicine and cell replacement therapies because of their unique ability to self-renew and their developmental potential to form all cell lineages in the body. Traditional techniques for generating hESC rely on surplus IVF embryos and are incompatible with the generation of genetically diverse, patient or […]