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The completion of the human reference genome over a decade ago served as a springboard for countless studies of genetic variation and its role in disease, but understanding how the body operates at the DNA sequence-level isn’t enough to resolve some of the finer points of human biology. Specifically: how can the same sequence of genetic code give rise to over 200 different cell types that perform distinct biological functions? And how might the processes that give rise to that functional variation contribute to human disease?

Cellular protein levels are dictated by the net balance of mRNA expression (the type of RNA that provides genetic information for proteins), protein synthesis, and protein degradation. While changes in protein levels are commonly inferred from measuring changes in mRNA levels (due to the difficulties involved in measuring protein levels), it’s not often clear whether determining RNA levels is actually a good proxy for measuring protein levels.

From person to person, the human genome varies in a number of important ways. Some of the variation is in the form of genetic misspellings – single nucleotide polymorphisms, or SNPs. Other variation takes the form of so-called “structural variation:” as genetic rearrangements, or as missing or extra segments of DNA, known as copy number variation (CNV). Scientists at the ӳ����ý and elsewhere are working to locate and characterize many different types of variation and look for connections between the variants and human traits and disease.

One of the great misconceptions about cancer is that, since tumors originate from normal cells, they are able to disguise themselves from the immune system—lurking undetected and unopposed as they divide and proliferate. In reality, the immune system is no passive observer when it comes to cancer. Evidence is mounting that many tumors undergo almost constant immune attack. But just how these attacks are initiated and what their effect is on different tumor types has remained largely unexplored. Until now.

B60, a new video series appearing on the , is a window into ӳ����ý science and culture. Each 60-second video offers a glimpse into the innovative work taking place at the institute, and the spirit of collaboration and creativity that makes it possible. Watch the series to learn how the ӳ����ý is tackling some of the most ambitious challenges in biomedicine today.