Blogs

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.

Read More

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.

Read More

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.

Read More

Machine learning approach improves CRISPR-Cas9 guide pairing

Veronica Meade-Kelly, January 18th, 2016

Some will say that finding just the right wine to pair with a meal can improve even the finest cuisine, transforming a pleasant gustatory experience into something approaching perfection. But with potentially hundreds of wines to choose from, picking the “right” one can be a chore for the casual wine-lover. That’s where the sommelier comes in, applying expertise to curate a list of only the best pairings to suit one’s needs.

Read More

Stem cells push back the frontiers of psychiatric research

Leah Eisenstadt, January 6th, 2016

The human brain is notoriously difficult to study. The organ is home to billions of cells that come in hundreds of flavors, woven into a network of trillions of dynamic cellular connections that make it one of the most complex structures in the body. It is the seat of decidedly human traits like language, creativity, and higher cognition that set us apart from other organisms, making animal models less than ideal for studying human illnesses like psychiatric disease.

Read More

A single gene spawning multiple disorders: Guoping Feng on Shank3 in autism, schizophrenia

Veronica Meade-Kelly, December 10th, 2015

Over the last few years, genetic datasets for psychiatric disorders have grown and many have merged, thanks in large part to the collaborative efforts of the Stanley Center for Psychiatric Research at Broad Institute, their partners at the Psychiatric Genomics Consortium, and the tens of thousands of donors who have contributed biological samples with the hope of helping to combat these debilitating disorders.

Read More

A biologist, a mathematician, and a computer scientist walk into a foobar

Jon Bloom, December 1st, 2015

Ryan Adams’ colloquium and machine learning at Broad

On November 12, the Broad welcomed a visit from Ryan Adams, a world leader in machine learning - a field at the intersection of applied math and computer science that develops models and algorithms to learn from data.

Read More

Seeking common ground in cancer cell line data

Nicole Davis, November 19th, 2015

The field of pharmacogenomics lies at the scalpel’s edge of personalized medicine, harnessing genomic tools to guide the use of drugs to treat disease. The idea is to marry precision with power — the right drug at the right time in the right patient. In cancer, researchers across the world have created two massive databases to help propel the biomedical community toward this goal.

Read More

CRISPR in the news

Paul Goldsmith, November 13th, 2015

Read More

5 Takeaways: Genetic association studies improve red blood cell production in vitro

Angela Page, October 22nd, 2015

Access to lifesaving blood transfusions can be limited due to supply. And even when matched donor blood is available, it can still be rejected by the patient’s immune system. A more effective means of generating red blood cells (RBCs) from stem cells could be game-changing for a number of different patient groups.

Read More