Blogs

If there were just one book of biology, it would be rewritten constantly with the sometimes dramatic, more often incremental advances in understanding that come with the nature of science. Constant revision can come with insight – think Darwin – or with technology – witness faster, cheaper sequencing machines – or with both.

Over the past five years, genome-wide association studies (GWAS) have identified about 2,000 common genetic variations that underlie human disease risk. Earlier this week, we told you about a model Broad researchers and collaborators developed to help explain how thousands of other common genetic variations with low effect size combine to contribute to disease risk in rheumatoid arthritis and three other common diseases with a known genetic link.

Picture a game of chess between the immune system and HIV. For every move the immune system makes against the virus, its opponent adapts, changing the game and shifting the advantage. But what if you could turn the clock back and watch the first few moves of the game? What could you learn about the virus from its opening moves?

Researchers from the Broad Institute and the Ragon Institute of Massachusetts General Hospital, MIT, and Harvard set out to take a careful look at a viral population during the critical time period just after infection.

The Broad Institute’s Director Eric Lander is among the recipients of the 2012 Dan David Prize – a prestigious Israeli award for achievements having an outstanding scientific, technological, cultural or social impact.

It’s been a long time since Chad Nusbaum has seen a conference room go so quiet so fast.

A speaker from Oxford Nanopore Technologies had just described the company’s new disposable device, which will sell for less than $900. The size of a USB memory stick, it reads individual chemical bases on a strand of DNA as it passes through a tiny hole, measuring differences in electrical conductivity to reveal their identity. A larger version of the device will stack in arrays that are projected to be able to sequence a human genome in 15 minutes.

When you speak with Kimberly Stegmaier about her work as a pediatric oncologist at Children’s Hospital Boston, it is clear that she loves treating patients, particularly children with hematological cancers like leukemia. Kim devotes her time to caring for children through the in-patient oncology service yet she also maintains long-term clinical relationships with patients she has been treating since completing her pediatric hematology oncology residency.

In 1987, Peter Gregersen was part of a big breakthrough in the field of rheumatoid arthritis (RA) research. By comparing versions of a particular gene in patients with RA to those without the disease, Peter and his colleagues found a telltale stretch of amino acids – the building blocks of proteins – that seemed to distinguish those who had RA from those who did not.

Chronic lymphocytic leukemia, the most common form of blood cancer, is a strikingly heterogeneous disease. In some cases, the disease is aggressive and fatal; in others, it causes few symptoms for years or decades. From a genome analysis perspective, CLL is also unusual: it is quiet.

When the Spanish flu stalked the globe in 1918, some theorized that the death toll was so dire because of the World War I effort. Young and previously healthy soldiers and civilians alike had simply pushed themselves too hard, the theory went, running down their immune systems and leaving them vulnerable to a viral pandemic that ultimately killed more than 50 million people worldwide.

This past October, we announced that Paul Blainey, an expert in single-molecule and single-cell approaches, would be joining the Broad as a core faculty member in early 2012. He will join us after completing postdoctoral research at Stanford University in the laboratory of Stephen Quake, where he has pioneered novel methods to perform single-cell microbial sequencing. As part of this work, he designed a 3.5-cm microfluidic chip that sorts single cells and amplifies their genomes to prepare for sequencing.