Trends in Genetics : TIG

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Analysis of human mutation rates and the number of genes required for human intellectual and emotional fitness indicates that we are almost certainly losing these abilities. If so, how did we get them in the first place, and when did things begin to change?

New developments in genetics, anthropology, and neurobiology predict that a very large number of genes underlie our intellectual and emotional abilities, making these abilities genetically surprisingly fragile.

Progress in understanding the genetics of human disease is closely tied to technological developments in DNA sequencing. Recently, next-generation technology has transformed the scale of sequencing; compared to the methods used in the Human Genome Project, modern sequencers are 50000-fold faster. Complex disease genetics presents an immediate opportunity to use this technology to move from approaches using only partial information (linkage and genome-wide association studies, GWAS) to complete analysis of the relationship between genomic variation and phenotype...

Patients with cancer face an ever-widening gap between the exponential rate at which technology improves and the linear rate at which these advances are translated into clinical practice. Closing this gap will require the establishment of learning loops that intimately link lab and clinic and enable the immediate transfer of knowledge, thereby engaging highly motivated patients with cancer as true partners in research. Here, we discuss the goal of creating a distributed network that aims to place world-class resources at the disposal of select patients with cancer and their oncologists, and then use these intensively monitored individual patient experiences to improve collective understanding of how cancer works...