Unraveling the genetic jumps that shaped skin and skin cancer risk

Nolan Kamitaki, a graduate student in the lab, uncovered how “jumping genes,” known as retrotransposons, have played a surprising role in shaping human traits. While genome-wide association studies identified genetic variation at the ASIP gene as a key player in skin pigmentation, the causal genetic variant remained elusive. We discovered […]


X chromosome loss in females linked to leukemia and autoimmune risk

Senior computational biologist and co-first author, Giulio Genovese, recently published “Genetic drivers and cellular selection of female mosaic X chromosome loss” in Nature. In this study, we explored the genetic causes and health implications of mosaic loss of the X chromosome (mLOX) in females. We analyzed data from over 880,000 […]

Colorful mosaic art of a person's silhouette, composed of small blue, red, yellow, and orange tiles with some tiles breaking away from the mosaic.

A new study of aging and schizophrenia reveals synchronized gene expression in astrocytes and neurons.

Postdoctoral researcher, Emi Ling, published her work on “A concerted neuron-astrocyte program declines in ageing and schizophrenia” in Nature. Ling et al. analyzed the prefrontal cortex of 191 human donors by single-nucleus RNA-seq of postmortem brain tissue samples pooled together in “villages.” We found a striking relationship between cortical neuron […]

Schematic of a neuron and astrocyte

Khalid Shakir featured in #WhyIScience Q&A Broad news story

In a recent #WhyIScience Q&A Broad news story, principal software engineer, Khalid Shakir, shares his journey from tinkering with spare equipment in his parents’ high school classrooms to pioneering large-scale computational tools, his passion for emerging technologies like AI, and the invaluable role of affinity groups like A4C in fostering […]

Khalid Shakir sitting on chair in office building

New project aims to map cellular variation in the healthy human brain

Steve McCarroll and lab alumnus, Evan Macosko, were interviewed by the Broad News team about their recently awarded grant from the NIH’s Brain Research Through Advancing Innovative Neurotechnologies (BRAIN) Initiative. Their grant aims to create an atlas of human brain cell variation and to better understand what generates that variation. […]

Steven McCarroll and Evan Macosko