The Genome Institute


Addressing human health and disease

The Genome Institute’s mission is to help improve the human condition by producing, studying, and interpreting high-quality genome-based data that drive biological discoveries ranging from the bench to the hospital bedside.


Identify genes and pathways responsible for human disease and useful for predicting treatment response

Lead in the development and application of faster, more efficient methods for analyzing human genomes on a massive scale

Foster the immediate and open sharing of data worldwide

Richard Wilson, PhD, and Elaine Mardis, PhD

Directors: Timothy Ley, MD, Elaine Mardis, PhD, George Weinstock, PhD, Richard Wilson, PhD

We are entering an exciting time of discovery. By more effectively decoding the information contained in our genomes, we will be able to pinpoint the defects responsible for disease and develop treatments tailored to the individual.

— Richard Wilson, PhD


The Genome Institute is a world leader in deciphering the genetic basis of cancer, cataloging the genetic differences among humans around the globe, discovering the genetic causes of disease and exploring the DNA of microbial genes that naturally coexist with human genes in every nook and cranny in the body.

One of only three nationally funded large-scale sequencing centers in the country, the Genome Institute contributed substantially to the Human Genome Project, which was completed in 2003. Since that time, the Institute has continually developed and applied new technologies to improve the accuracy, increase the speed and reduce the cost of genome sequencing and the integrated analysis of genomic data.

Genome sequencing involves spelling out the precise order of the 3 billion chemical letters — a long string of As, Cs, Gs and Ts — that make up a molecule of DNA. While the order of those letters varies slightly from person to person, the challenge for scientists has been to determine which variations are considered “healthy” and which can contribute to cancer or other genetic diseases.

In 2008, scientists at the Genome Institute became the first laboratory in the world to sequence the genome of a cancer patient. By comparing the patient’s own genome with the genome of her tumor cells, they identified the genetic errors that likely caused her cancer. The success of this privately funded endeavor has led to other landmark projects that have allowed for the sequencing of hundreds of cancer patients’ genomes. Although this represents an important new approach to the study of cancer, there still is much to be done.

A portion of the cancer genomics research at the institute is being carried out as part of the Cancer Genome Atlas project, a collaboration funded by the National Human Genome Research Institute and the National Cancer Institute. Genome Institute researchers also recently helped to launch the Alzheimer’s disease sequencing project, are playing a leading role in the 1,000 Genomes Project, to understand human genetic variation, and the Human Microbiome Project, to explore and catalog the trillions of microbes that inhabit the human body and determine how they contribute to good health and disease.


Director: Richard Wilson, PhD, professor of genetics and of molecular microbiology

Co-Director: Elaine Mardis, PhD, professor of genetics and of molecular microbiology

Associate Director: Timothy Ley, MD, Lewis T. and Rosalind B. Apple Professor of Medicine, professor of genetics

Associate Director: George Weinstock, PhD, professor of genetics and of molecular microbiology