Disease Focus: Pediatrics
Engineered iPSC for therapy of limb girdle muscular dystrophy type 2B
Limb girdle muscular dystrophy type 2B (LGMD 2B) is a form of muscular dystrophy that leads to muscle degeneration and disability. In LGMD 2B, a vital muscle protein is mutated, and its absence leads to progressive degeneration of muscles in the body that are needed for mobility. To create a therapy, we will provide a […]
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 […]
Induced pluripotent stem cells from children with autism spectrum disorders
Autism spectrum disorders (ASD) are a family of disabling disorders of the developing brain that affect about 1% of the population. Studying the biology of these conditions has been difficult as they have been challenging to represent in animal models. The core symptoms of ASD, including deficits in social communication, imagination and curiosity are intrinsically […]
In Utero Embryonic Stem Cell Transplantation to Treat Congenital Anomalies
Many fetuses with congenital blood stem cell disorders such as sickle cell disease or thalassemia are prenatally diagnosed early enough in pregnancy to be treated with stem cell transplantation. The main benefit to treating these diseases before birth is that the immature fetal immune system may accept transplanted cells without needing to use immunosuppressant drugs […]
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 (
Modeling Alexander disease using patient-specific induced pluripotent stem cells
Alexander disease (AxD) is a devastating childhood disease that affects neural development and causes mental retardation, seizures and spasticity. The most common form of AxD occurs during the first two years of life and AxD children show delayed mental and physical development, and die by the age of six. AxD occurs in diverse ethnic, racial, […]
Stem Cell Mechanisms Governing Discrete Waves of Gliogenesis in the Childhood Brain
White matter is the infrastructure of the brain, providing conduits for communication between neural regions. White matter continues to mature from birth until early adulthood, particularly in regions of brain critical for higher cognitive functions. However, the precise timing of white matter maturation in the various neural circuits is not well described, and the mechanisms […]
A monoclonal antibody that depletes blood stem cells and enables chemotherapy free transplants
Successful stem cell therapy requires the replacement of diseased or dysfunctional stem cells with healthy ones. These healthy stem cells can come from either a donor or can be stem cells that are modified by gene therapy techniques. One important step in this process of repair and replacement is to eliminate the existing diseased cells […]
Gene Correction of Autologous Hematopoietic Stem Cells in Artemis Deficient SCID
Artemis is a chemical in all cells in the body that is essential for the normal development of the immune system and repairing damaged DNA. Artemis deficiency (AD) causes Severe Combined Immunodeficiency (SCID-A), a “bubble baby” syndrome associated with increased sensitivity to radiation and chemotherapy. SCID-A is hard to treat with a bone marrow stem […]
Generation of hepatic cell from placental stem cell for congenital metabolic disorders
Approximately 1 in 1,500 children has a congenital metabolic disorder. These inborn errors of metabolism are caused by deficiencies of different enzymes and result in accumulation of various substances inside cells. These substances affect the function of vital organs, and in many cases are lethal. Transplantation of cells that possess the particular deficient enzyme carries […]