Tag Archives: broad

Researchers engineer ‘Cas9’ animal models to study disease, inform drug discovery

In recent years, genetic studies have found thousands of links between genes and various diseases. But in order to prove that a specific gene is playing a role in the development of the disease, researchers need a way to perturb it — that is, turn the gene off, turn it on, or otherwise alter it — and study the effects. The CRISPR-Cas9 genome-editing system is one of the most convenient methods available for making these alterations in the genome. While the tool is already being used to test the effects of mutations in vitro — in cultured cell lines, for instance — it is now possible to use this tool to study gene functions using intact biological systems…

Study expands cancer genomics universe

"For the first time, we know what it will take to draw the complete genomic picture of human cancer," said Broad Institute founding director Eric Lander, a senior co-author of the paper. "That’s tremendously exciting, because the knowledge of genes and their pathways will highlight new, potential drug targets and help lead the way to effective combination therapy." Over the past 30 years, scientists had found evidence for about 135 genes that play causal roles in one or more of the 21 tumor types analyzed in the study. The new report not only confirms these genes, but, in one fell swoop, increases the catalog of cancer genes by one-quarter. It uncovers 33 genes with biological roles in cell death, cell growth, genome stability, immune evasion, as well as other processes…

Multiple myeloma study uncovers genetic diversity within tumors

"What this new work shows us is that when we treat an individual patient with multiple myeloma, it’s possible that we’re not just looking at one disease, but at many — in the same person, there could be cancer cells with different genetic make-ups," said co-senior author Todd Golub, the Broad Institute’s Chief Scientific Officer and Charles A. Dana Investigator in Human Cancer Genetics at the Dana-Farber Cancer Institute. Golub is also a professor at Harvard Medical School and an investigator at Howard Hughes Medical Institute. …

Mutation discovery may improve treatment for rare brain tumor type

The discovery, reported in Nature Genetics, is encouraging, because it may be possible to attack the tumors with targeted drugs already in use for other kinds of tumors, said the investigators from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard. The mutated gene, known as BRAF, was found in almost all samples of tumors called papillary craniopharyngiomas. This is one of two types of craniopharyngiomas — the other being adamantinomatous — that develop in the base of the brain near the pituitary gland, hypothalamus, and optic nerves. The papillary craniopharyngiomas occur mainly in adults; adamantinomatous tumors generally affect children. …

International team completes systematic, genomic study of cervical cancer

The study, which appears online in Nature, addresses a public health concern of global significance: cervical cancer is the second most common cancer in women and is responsible for approximately 10 percent of cancer deaths in women — particularly in developing countries where screening methods are not readily accessible. Almost all cases of the disease are caused by exposure to HPV and it is expected that vaccination efforts targeting HPV will decrease cervical cancer cases over time. In the meantime, however, the disease remains a significant threat to women’s health. …