Genetics & Genomics

Genetics and genomics have the potential to transform how we prevent, diagnose, treat and monitor illness. Genetics yields insights into the effects of single genes that are passed down through generations while genomics builds on this area of study by exploring the entire set of genes and their interactions within an organism. 

Center scientists are utilizing stem cellsCells that have the ability to differentiate into multiple types of cells and make an unlimited number of copies of themselves.stem cellsCells that have the ability to differentiate into multiple types of cells and make an unlimited number of copies of themselves. to understand how genetic and genomic variations impact human development and contribute to a spectrum of diseases including cancer, heart disease and autism. By studying induced pluripotent stem cellsiPSCs are adult cells — typically skin or blood — that have been reprogrammed in the lab to behave like stem cells, giving them the potential to become any of the cell types found in all major tissues in the body. Because they are made from a patient's own cells, they carry that person's unique genetic code, making them a powerful tool for disease research and personalized medicineinduced pluripotent stem cellsiPSCs are adult cells — typically skin or blood — that have been reprogrammed in the lab to behave like stem cells, giving them the potential to become any of the cell types found in all major tissues in the body. Because they are made from a patient's own cells, they carry that person's unique genetic code, making them a powerful tool for disease research and personalized medicine derived from the cells of patients with genetic diseases, our researchers are not only pinpointing the genetic causes of disease but also developing gene therapyA technique that uses a gene or gene(s) to prevent, treat or cure a disease or disorder. Most gene therapies work by adding a healthy version of a gene to replace one that is defective or missing into the genome of particular cells. Some of these therapies use viral vectors to deliver genes into target cells.gene therapyA technique that uses a gene or gene(s) to prevent, treat or cure a disease or disorder. Most gene therapies work by adding a healthy version of a gene to replace one that is defective or missing into the genome of particular cells. Some of these therapies use viral vectors to deliver genes into target cells. approaches to correct these defects and restore health. 

Researchers working in these fields leverage cutting-edge computational and bioinformatic approaches to extract key insights from large amounts of data. These advances are serving as a foundation for precision medicine approaches that can predict an individual’s predisposition to disease and develop tailored prevention and treatment strategies. The data used in this research has historically focused on white European populations, leaving huge gaps in knowledge and exacerbating existing health inequities. Center scientists are committed to increasing the diversity of populations represented in genomic studies so that all people may benefit from this research.