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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.

In a new paper published online by , researchers from Dana-Farber Cancer Institute (DFCI) and the ӳý systematically investigated somatic copy number alterations of noncoding regions across cancers, integrating genomic, epigenomic, and transcriptomic data.

The team found six super-enhancer regions that are focally amplified across different cancer types, including two that are associated with overexpression of the MYC oncogene, suggesting that this type of modification may be a common mechanism activating cancer driver genes. The team, which was led by senior author Matthew Meyerson and first authors Xiaoyang Zhang, Peter Choi, and Joshua Francis – all of ӳý and DFCI – also used genome-editing technologies to validate the oncogenic function of these focally amplified super-enhancers.

Myeloproliferative neoplasms (MPNs) are a series of blood disorders that tend to lead to acute myeloid leukemia (AML). The most common genetic mutation in MPNs is called JAK2V617F, an activating mutation in JAK2 kinase. Although JAK2V617F has been associated with increased DNA damage, MPNs are diseases characterized by genomic stability.

In a recent paper published by , ӳý associate member and senior author Ann Mullally, first author Edwin Chen, and colleagues address this paradox by showing that a DNA helicase called RECQL5 suppresses genomic instability in MPNs even as JAK2V617F instigates a state of DNA damage.

In the years since the human genome was first sequenced, a trove of genomic data has been amassed, aiding not only in our understanding of how the body works, but also in the search for disease-fighting drugs. Indeed, finding connections between idiosyncrasies within the genome and effective treatments is the hallmark of “precision medicine,” a growing movement that aims to target therapeutics to those who would most likely benefit from their use.