Steve McCarroll is the director of genetics for the Stanley Center for Psychiatric Research at the Broad Institute. He is also a professor in the Genetics Department of Harvard Medical School. McCarroll’s goal is to use genetics to reveal the molecular basis of mental illnesses, generate new ideas for therapeutics, and understand how genome variation gives rise to variation in human biology.
McCarroll has worked to find and better understand genetic risk factors for diseases such as schizophrenia and bipolar disorder by combining genome-wide data, collected from large cohorts of patients, with focused molecular biological experiments in neurons and brain. Having helped find many genetic influences on risk of these disorders, McCarroll and his group seek to understand what biological perturbations arise from these genetic variants – what genes and proteins are affected, and in what populations of cells, and how the molecular biology of these cells, especially neurons, varies under the influence of these genetic differences.
McCarroll also studies large-scale variation in the human genome, including the deletion, duplication, and rearrangement of long genomic segments consisting of hundreds of thousands of base pairs. He has developed widely used molecular tools for identifying such "structural" variation in genomic DNA, and computational approaches for identifying such variation from genome-wide sequence data sets. McCarroll and his colleagues have found that several of these large-scale structural variants are strong risk factors for schizophrenia, autism, and other clinical phenotypes.
McCarroll received his Ph.D. from University of California, San Francisco where he worked in the lab of Cori Bargmann, studying how genome sequence regulates the expression of genes in the nervous system. He completed his postdoctoral fellowship in the lab of Broad Institute core member David Altshuler at Massachusetts General Hospital and the Broad Institute, studying human genome variation and the genetic basis of complex phenotypes.