Blogs

Perhaps no one has a more complete picture of a disease than a physician-scientist does. Take Adam Bass, who this week published, with his co-authors, a study on the genome sequence of esophageal adenocarcinoma (EAC), a deadly cancer that starts in the lower esophagus: as a physician, Bass has cared for patients afflicted with EAC, and has seen its devastating effects. As a research scientist, Bass has also seen the inner workings of the disease, and is hunting for its vulnerabilities.

How does a single cell give rise to a fully formed organism? Insights from induced pluripotent stem (iPS) cells – cells whose developmental clocks have been wound backward to an earlier time – have helped scientists develop a deeper understanding of this process. Since scientists discovered how to create iPS cells seven years ago, researchers have begun to see parallels between the steps required to make iPS cells in the dish and the molecular events that unleash a cancer cell.

Prick your finger with a pin, and you’re likely to have a reflexive response – possibly blood, a jerk of the hand, and an anguished cry. Penetrate the skin with a finer tool, however, such as an acupuncture needle or a mosquito’s proboscis, and the reaction – if there is one – might not be as immediate or severe; the piercing invader is simply too slight to notice.

Consider the classic "message in a bottle" scenario: a man is stranded on an uncharted landmass far from civilization. Thanks to his watertight missive, he is able to let others know that he's out there — that the landmass on which he is marooned exists somewhere in the world. However, without any reference points, his exact location remains a mystery.

Eric Lander, the Broad Institute’s president and founding director, is among 11 recipients of the first Breakthrough Prize in Life Sciences, an award that recognizes excellence in research aimed at curing intractable diseases and extending human life. Founding sponsors of the Breakthrough Prize include Sergey Brin, Anne Wojcicki, Mark Zuckerberg, and Yuri Milner. Art Levinson will serve as the Chairman of the Board of the Foundation administering the prize.

According to today’s prize announcement, Lander was selected for the discovery of general principles for identifying human disease genes, and enabling their application to medicine through pioneering work to create and analyze genetic, physical and sequence maps of the human genome.

Ask anyone in civil service – taking a census isn't easy. Gathering information about a population in a specific region can be a logistical nightmare; would-be respondents are often not at home or simply don’t answer the door. Sometimes a person ends up in the mix that shouldn’t be; a visitor gets added to the count by mistake, or a clerical error places a person in the wrong residence. In a big, hectic world, accurately tracking where individuals live is a major challenge.

Over the last year, researchers at the Broad and elsewhere have analyzed genes in over 100 samples of breast cancer, identified new pathways in head and neck cancer, uncovered new subtypes of prostate cancer, and revealed significant mutations in dozens of forms of cancer. Behind all of these studies lies a central tool developed by Broad researchers: MuTect. Used to detect point mutations – single “letter” alterations in the genome that may help twist a normal cell into a cancerous one – the MuTect algorithm is one of the engines powering cancer genome analysis.

Many of the most remarkable tools in genome engineering have humble beginnings. This week, Broad core member Feng Zhang and his colleagues from MIT and Rockefeller University report on one of the newest additions to the growing list of genome editing technologies. Known as CRISPR (clustered regularly interspaced short palindromic repeats) systems,

This week, Mitch Guttman — one of the Broad Institute’s first generation of “alumni” — was named to the Forbes "30 Under 30: Science and Healthcare" list of rising stars. This accolade comes on the heels of another prestigious honor for Guttman, who received an NIH Early Independence Award in the fall.

Most likely, German physician Robert Koch never dreamed of genomes. When he died in 1910, Koch certainly didn’t know that a century later his work would still have echoes in the research of physicians and geneticists interested in our genes’ inner workings and how the code within us leads to disease.