Kari Stefansson led the group of renowned scientists and clinicians who presented at

Kari Stefansson led the first of two sessions focused on rare diseases at WuXi NextCODE’s annual “Genomes for Breakfast” series at the ASHG 2017 meeting in Orlando, Florida.

WuXi NextCODE’s annual “Genomes for Breakfast” sessions at the ASHG meeting in Orlando, Florida last week. Two of these sessions focused specifically on rare diseases, one from a population perspective and the other from a clinical perspective.

We were honored to host all our speakers, each of whom are leaders in their fields. They included some of our distinguished longstanding and newer partners as well as some of our own WuXi NextCODE colleagues. We had near-capacity crowds of some 300 attendees for each of the breakfasts. That setting provided an inspirational showcase of progress in understanding rare disease and also how WuXi NextCODE’s global platform can help accelerate this critical work.

The goal for us all is to enable rapid and affordable diagnosis of rare diseases in as many countries as possible. And WuXi NextCODE is uniquely positioned to support this endeavor.

As only he can do, Kari kicked the population session off with a deep dive into what he has gleaned from looking at the unique genetics resources he has amassed at deCODE genetics in Iceland over the past 20 years. These resources are of astonishing scale, including the directly sequenced whole genomes of nearly 50,000 Icelanders and 10,000 others; imputed whole genome from 400,000 Icelanders; and SNP data from nearly a million people around the world.

It was an even more notable event, because this year, Kari received the William Allen Award, the ASHG’s highest honor; so the full breadth of the work he and his deCODE colleagues have achieved was featured at several points in our events and elsewhere during the three-day meeting. Underscoring the reach and global outlook of deCODE’s work, Kari pointed out that deCODE is currently collaborating with over 250 international groups and 25 consortia. And his talk was particularly significant for us, because deCODE is not only the world’s first and largest population genomics effort, it is also the crucible in which our technology was forged and the inspiration for the large-scale genomics efforts that we partner with around the world.

Leading off the first breakfast session, entitled “Using Population Genomics to Understand Common and Rare Diseases,” Kari spoke to how deCODE has set out to capture and correlate not just variation in the genome and phenome, but also how genetic diversity itself is actually generated. He pointed out that you could look at life forms as entities whose function is to protect DNA, rather than the other way around. Understanding how DNA changes through generations is a mission-critical task for applying genomics to human health. Where are the sites of the most recombination? Under what circumstances and where are you most likely to see de novo mutations arise?

A pivotal 2002 paper from deCODE provided the world with the first high-resolution recombination map of the entire genome. That map was used to complete the assembly of the Human Genome Project (HGP): Before that paper was published, the HGP’s assembly was about 91% accurate. After the data from deCODE were incorporated, the map reached 99% accuracy.

One of Kari’s observations was that all physiological function is spread across populations in an essentially normal distribution. Looking at extremes—the rare phenotypes—is important, because they often reflect rare genetic factors that can reveal important information about biochemical pathways relevant not only to those carrying the mutations, but also to the rest of the population that has more common, but less extreme, perturbations in those pathways. In this sense, rare variant identification is important for public health in two ways: to diagnose and better treat those with rare disorders, and to find drug targets that can benefit all of us. Rare disease, it turns out, is a common challenge that we all need to meet together.

Kari was followed by two other outstanding speakers and WuXi NextCODE partners: University of Pittsburgh Medical Center’s Annerose Berndt and Khalid Fakhro of the Sidra Medical and Research Center in Qatar. I will provide details about their talks in my next post.