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GEN invites its readers to gaze into the crystal ball that is the January 2020 issue
Mike May, PHD | Genetic Engineering & Biotechnology News | January 3, 2020
The crystal ball has had its ups and downs as a means of divination. Although it was esteemed by the Druids and other ancient peoples, the crystal ball fell into disrepute during the Middle Ages, only to enjoy a Renaissance during the, well, Renaissance. In those daring times, the crystal ball acquired a quasi-scientific status among academics, who would use it while hoping to communicate with angels. Purportedly, angels would convey their superior wisdom through fleeting visions to be perceived by crystal ball readers.
Today, the crystal ball is just a reminder that we still want glimpses of the future, visions conveyed by angels. That’s certainly the case for those of us in fast-changing fields such as biotechnology and genomics. So, where is our crystal ball? It’s right here—the January issue of GEN! In this special issue, we’re presenting visionary insights courtesy of 20 life sciences experts, both veteran scientists and emerging talents. They reward crystal ball gazing from multiple angles of view: genomics, proteomics, synthetic biology, cancer research, gene therapy, drug discovery, bioinformatics, artificial intelligence, and more.
What have been the biggest advances in your field over the past few years?
Haussler: The ability to CRISPR-edit stem cells, including mouse, chimp, and human stem cells, and then grow them into organoids in the lab. My dream for decades has been to peer into human evolution at the level of individual genes and gene functions, directly experimenting with genetic modifications by verifying their effects on tissues in organs in the lab. It’s incredibly exciting that we’re able to do that now.
In 2013, when we presented our initial findings on the recently evolved human-specific Notch gene NOTCH2NL, the general reaction was, “amazing if true.” We spent the next five years working to convince everybody. The development of the CRISPR-Cas9 system provided a crucial tool for our work—as it has for so much other work—along with organoid technology.
What’s your vision for the future of the field over the next 5–10 years?
Haussler: I see a future where we routinely sequence complete, diploid human genomes with long-read technology, both in research and in clinical practice. That will allow us to understand the effects of rare mutations for the first time, including mutations in the currently impossible-to-sequence regions of the human genome, such as [the part of] chromosome 1q21.1 where NOTCH2NL resides. This region is associated with autism, schizophrenia, attention deficit hyperactivity disorder, and other conditions.
We’re betting on long-read sequencing technology to provide a complete, accurate understanding of human genome variation at all scales, from point mutations to large-scale rearrangements and duplications, and we’re launching a new “pangenome” initiative from the National Human Genome Research Institute to obtain at least 350 new reference genomes from people all over the world, each sequenced in diploid form with chromosomes more complete than those in the current reference genome. One human reference genome cannot represent all of humanity.
We must also move toward more data sharing, so that we can understand very rare or statistically subtle effects, which collectively dominate biomedical phenomena.