Putting a face on rare disease

Tom Ulrich, April 8th, 2016

A traveling art exhibit featuring portraits of children with rare diseases comes to the Broad this spring to humanize and inspire research on these conditions.

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From spectrum to continuum

Veronica Meade-Kelly, March 17th, 2016

New research uses genetic and behavioral data to shed light on autism-associated traits in the general population

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Broad Institute joins White House Precision Medicine Summit with researchers, initiatives to drive health research forward

Paul Goldsmith, February 25th, 2016

On Thursday, February 25th, President Obama hosted a panel discussion as part of the White House Precision Medicine Initiative Summit, which included discussions of three Broad initiatives and research projects. The summit highlighted progress made as part of the President’s Precision Medicine Initiative (PMI).

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Good apart, better together

Lisa Girard, February 11th, 2016

Synergy between two large cancer datasets may help identify a targetable weakness across many cancers

When making a simple telescope, relative adjustments between two lenses can bring previously blurry objects sharply into focus. Peering through two such “lenses” recently led to a discovery that may help identify which patients could most benefit from taking aim at a potentially widespread cancer therapeutic target.

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Enhancer hijacking means a power-up for salivary gland cancer

Angela Page, February 5th, 2016

Cancers can be cunning beasts and one of their favorite opportunities is something called a chromosomal translocation. Chromosomes are the 23 packages in every cell of condensed DNA. Translocations happen when the DNA breaks and the ends reattach elsewhere. DNA breakage actually occurs somewhat frequently, even in healthy individuals. But a series of ancient and very smart cellular processes ensure that things get put back in the right place — except when they don’t.

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Pardis Sabeti: How we'll fight the virus next time

Paul Goldsmith, February 4th, 2016

When Ebola Zaire swept across West Africa in early 2014, a research team led by Broad Institute member Pardis Sabeti worked with collaborators from Sierra Leone and around the world to collect samples, rapidly sequence genomes, and share data in order to accelerate the outbreak response effort.

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“Molecular sleds” slide cargo along DNA

Leah Eisenstadt, February 2nd, 2016

Protein interactions via a new type of biochemistry- one-dimensional biochemistry

Broad core institute member Paul Blainey recalls that toward the end of his graduate training in Chemistry and Chemical Biology at Harvard nearly a decade ago, things became really interesting. He got a request for help from a scientist who studies viruses that would later lead to their discovery of a new vehicle for intracellular transport dubbed a “molecular sled” and help chart the path of Blainey’s own scientific career.

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In search of a telltale sign

Nicole Davis, February 1st, 2016

By scouring the genomes of a mysterious, blood vessel-hugging brain tumor in children, researchers unearth a single mutation that helps unlock its biology

Cancer can be a devastating diagnosis at any age, but it is particularly tragic in young children. While many pediatric tumors are now readily treated or even cured, for other forms, particularly tumors of the brain, the outcomes are not so rosy.

And yet, somewhat surprisingly, these childhood cancers remain understudied and underfunded relative to their adult counterparts.

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The beauty of imbalance

Angela Page, January 21st, 2016

Every day, every cell in the body picks up one or two genetic mutations. Luckily, cells have a whole battery of strategies for fixing these errors. But most of the time, even if a mutation doesn’t get fixed — or doesn’t get fixed properly — there are no obvious functional implications. That is, the mutation isn't known to impair the function of the cell. Some mutations, however — called “driver” mutations — do impair the cell, leading to cancer, aging, or other types of diseases.

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Calculated risk

Paul Goldsmith, January 20th, 2016

Prion disease is the common name for a family of rare, progressive neurodegenerative disorders that can be caused by mutations in the prion protein gene (PRNP). These mutations produce misshapen proteins, which accumulate, destroying neurons and leaving the brain with sponge-like holes resulting in dementia, and ultimately death. More than 60 genetic mutations have been associated with prion disease—and until now, many physicians have assumed that all of these variants confer an identical, 100% likelihood of developing the associated prion disease.

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