MAPPING the regulatory OF THE HUMAN GENOME
T he human genome, once an un- decipherable code, is now more easily and completely understood than ever. After the completion of the first human genome sequence in 2003, researchers were left with the monumental task of figuring out what parts were functionally important. It became apparent that only about one percent of the human genome codes for proteins that play important roles in the cells throughout our bodies. The vast majority of our genome was thought to be non-coding. These often-overlooked portions of DNA emerged as key players in the field of genetics. Many of these non-coding regions act as in- tricate DNA switches, controlling when and where genes are turned on and off. This process, called gene regulation, is important in all normal func- tions of our bodies, including cell differentiation, response to environmental changes, development, and growth. Dysregulation of gene regulation can lead to disease. By understanding gene regulation and how it changes in response to the environment, during differentiation, and during development, re- searchers are unlocking new frontiers in medicine, with the potential to develop targeted therapies for a wide range of conditions.
ENCODE’s legacy lies not only in its groundbreaking discoveries but also in its commitment to open data, fostering the strong
spirit of collaborative innovation we see today.
—Rick Myers, PHD
ENCODE group early days
THE ENCODE PROJECT: PIONEERING BREAKTHROUGHS IN GENE REGULATION
After the first human genome was sequenced, a new era of genetic discovery was unfolding. A major con- tributor to this endeavor was a team led by Faculty Investigator Rick Myers, PhD , who played a signifi- cant leadership role in the Human Genome Project. One of the most notable contributions of Myers’
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HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY
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