Boundary-Breaking Genetic Research
PNRI’s unbridled exploration creates transformational science. Our discoveries become the backbone for cutting-edge ways to diagnose and treat a wide variety of diseases.
PNRI’s labs unravel the powerful mysteries of the human genome through the lens of “what keeps us healthy” to drive future medical breakthroughs. While each lab has its own unique focus, they are united by a drive to create a healthier future for all humans.
Explore the research topics below to learn how PNRI scientists are using innovative approaches to tackle some of the most difficult problems in science and medicine.
The Metzger Lab investigates contagious cancers found in clams, cockles, and other marine bivalves, serving as model organisms to study how cancer evolves and how some hosts resist succumbing to cancer. This research can then be applied to understanding how cancer develops in humans and how some people remain healthy in the face of a risk of developing cancer.
The Galas Lab develops innovative mathematical methods and computational tools to pinpoint genes, networks, and pathways responsible for the development of many diseases, including stress-related diseases. Their cutting-edge, information-theory-based methods enable novel genetic analysis, leading to a deeper understanding of the processes of illness and health and contributing to the development of preventive, personalized medicine.
Genetics of Brain and Behavior
The Stubbs Lab focuses on the genetics of brain development, and how differences in brain development translate into individual behaviors and susceptibility/resilience to disease.
They work to identify critical genetic factors and their interacting partners, with a special focus on brain late gestation and postnatal development when brain regions that determine intellectual capabilities, social interaction, and emotions begin to mature.
The Carvalho and Dudley Labs both study rare genetic diseases. The Carvalho Lab investigates the molecular causes of rare genetic diseases, such as primary immunodeficiency and Robinow Syndrome, and their impact on human health and development. The Dudley Lab harnesses the power of yeast to determine the functional impact of genetic variants in genes associated with inherited metabolic disorders.
The Stubbs Lab in partnership with the Galas Lab is researching genetic factors that coordinate the brain’s response to stress. The hypothesis being that genetics may provide key links to health disorders associated with threat, deep uncertainty, or deprivation, such as type 2 diabetes, cardiovascular disease, insomnia, anxiety, depression, and Alzheimer’s disease.
Transposable elements (TEs), or “jumping genes” that move from one location in the genome to another, constitute a significant source of new genetic mutations in humans that drive various genetic diseases. The McLaughlin Lab studies how the human genome both supports and prevents the spreading of TEs and the ways that hidden variation in TEs can alter an individual’s susceptibility to disease.
Type 1 Diabetes
The Hagopian Lab develops strategies to predict and prevent type 1 diabetes, including newborn and pediatric screening, low-cost, high-accuracy islet antibody tests, and a scoring system for genetic risk. This lab also pursues clinical trials of low-toxicity immune therapies that help newly diagnosed patients preserve their remaining insulin production for better diabetes management and prevent diabetes before symptoms develop.
Urea Cycle Disorders
The Dudley Lab harnesses the power of yeast to identify benign and pathogenic genetic variants of genes associated with urea cycle disorders (UCD). UCDs result from inherited deficiencies in any of the eight proteins in the urea cycle. Infants with neonatal onset often appear healthy at birth but rapidly develop high levels of ammonia and cerebral edema that can progress to coma and death. By providing quantitative data on the functional impact of thousands of variants, the Dudley Lab’s results are filling critical unmet needs that will improve the diagnosis and treatment of these devastating diseases.