Human IPS Cells and Cerebral Palsy: Patient and Family Enrollment for Genetic and Biological Pathway Discovery and Insights into Novel Treatment Approaches
Cerebral palsy (CP) is a complex and debilitating childhood disorder that affects up to 4 in every 1000 children born in California and throughout the world. There are over 800,000 children in the US alone with CP, and this disorder crosses ethnic, racial and geographic lines. Children with CP suffer from weakness and impaired movement of the limbs and trunk. Beyond the significant motor disability, children with CP can also have seizures, intellectual impairment, hearing and vision loss, and autism. Caring for a child with CP is a complex process involving many medical and non-medical specialists, with enormous financial costs that average more than $1,000,000 over a lifetime. Currently there is no treatment that targets the underlying biology of CP; instead, there are only symptomatic treatments. Moreover, while there are clues that problems in brain development can cause CP, the exact nature of these abnormalities is not clearly delineated. This study will enroll patients with CP (and their families) into a longitudinal study in which white blood cells taken from a simple blood draw will be used to generate stem cells for research. In the laboratory these stem cells could be used to study how certain aspects of brain development are disrupted in these patients. In the future, these cells could also serve as “test tube” surrogates in which investigators can test the efficacy of new drugs that might eventually treat the core deficits in CP.
An estimated 100,000 individuals in the state of California have cerebral palsy. They require considerable medical assistance and their disability impairs that capacity to reach their full potential. If this proposal is funded, it would allow California residents with CP to contribute to our understanding of CP biology, which many families find an important and satisfying goal. We not only have patients in the Child Neurology practice at [REDACTED] with CP, we will also be receiving recruitment assistance from state agencies whose mandate it is to care for these patients, so we will reach out broadly to the CP population in California. This study will increase awareness of CP in California and holds the potential to improve treatment strategies. If this initial repository of stem cells is generated in California, it increases the chances that follow up studies will be done here (and funded by outside agencies in addition to CIRM). Not to be under-considered, this study if funded would provide additional medical research employment in California, which not only has immediate effects on the economy but also helps train the next generation of California scientists.