Genetic studies increasingly demonstrate that brain disease is highly heritable, and that it can arise as a result of a growing number of rare and common genetic variants.
It is critical that we unravel how these many risk factors interact within and between the diverse cell types populating the brain. By developing human induced pluripotent stem cell (hiPSC)-based models for the study of predisposition to neurodegenerative and psychiatric diseases, we have established new platforms by which to systematically test the impact of causal variants in human cells. We are moving towards a model of precision medicine, wherein each patient’s genetic variants, and interactions between them, can predict disease trajectory and potential therapeutic interventions.
Laboratories in the Black Family Stem Cell Institute study a variety of human brain diseases, from autism spectrum disorder and schizophrenia to Alzheimer’s disease and Parkinson’s disease. Our goal is to better understand the distinct genetic, epigenetic, and environmental risk factors that predispose us to some diseases and confer resilience to others. Our highly collaborative work involves integrating advanced neurogenetic and epigenetic studies, rigorously characterized clinical cohorts, and hiPSC-based analyses, allowing us to move seamlessly between large-scale clinical datasets and isogenic functional evaluations.
Investigators with a major focus in neurodegenerative diseases include: