Kári Stefánsson Honored with Prestigious Award for Significant Contributions to Human Genetics Research
The American Society for Human Genetics bestows its top prize, the William Allan Award, on the founder of deCODE Genetics, an Amgen subsidiary.
For more than 20 years, deCODE Genetics has been a prolific source of major discoveries into the ways that variations in the human genome impact our risk for disease. For his vision in founding deCODE and long-term success as the company’s scientific leader, Kári Stefánsson has been honored with the 2017 William Allan Award.
Established in memory of a leading pioneer in human genetics research, the William Allan Award is the top prize bestowed by the American Society for Human Genetics (ASHG). Recipients are selected based on their far-reaching contributions to the field, combined with a record of research productivity sustained over many years. The prize was presented to Kári on October 18 at the ASHG Annual Meeting in Orlando, Florida. Kári is the CEO of deCODE, the Iceland-based subsidiary of Amgen.
In announcing Kári’s selection, the society observed that his discoveries have encompassed both specific genes and broad scientific principles. “deCODE has identified variants associated with many phenotypes, such as type 2 diabetes, prostate cancer, heart attack, and schizophrenia. Their research has also helped explain key biological processes, such as recombination, de novo mutations, and parent-of-origin effects.”
The society also noted that deCODE’s ambitious approach to genetics is being emulated today by major research organizations. “deCODE’s work has inspired similar large-scale studies in other countries, including the UK Biobank and the United States’ All of Us initiative.”
deCODE’s research is also providing a stronger, more innovative foundation for drug discovery. Potential new medicines with biological targets validated by human genetics are more likely to succeed in clinical trials and be approved for use in patients. Amgen is working closely with deCODE to incorporate its research into Amgen’s drug discovery programs in an effort to enhance and accelerate target discovery, validation and prioritization.
“The new genetic research paradigm built by Kári Stefánsson is helping Amgen to answer basic questions about the biological roots of disease,” said Sean Harper, executive vice president for Research and Development at Amgen. “By developing a way to make genetic discoveries on an industrial scale, Kári has provided a new and more powerful way to identify relevant targets that could, ultimately, result in meaningful medicines for patients.”
Building an infrastructure for human genetics research in Iceland
Given deCODE’s widely acknowledged leadership in the field, one can forget that its plans were once dismissed as too futuristic and likely to fail. When Kári founded the company in 1996 in Reykjavík, Iceland, the country had little experience in or infrastructure for large-scale genetic research.
However, he had the foresight to recognize that the Icelandic nation had novel attributes that offered a promising basis on which to conduct genetic research. They included a relatively small, isolated, and homogeneous population and a society with a high-quality health care system and extensive genealogical records. The infrastructure that Kári and his team constructed in Iceland enabled deCODE to leverage these unique advantages.
“Our research has been based on gathering two large sets of data,” Kári said. “One of them is a data set on the diversity in the sequence of the genome, and the other is the diversity in all different kinds of phenotypes. The idea is to figure out non-chance relationships between data points in these data sets, and that is basically what we have done at deCODE.”
deCODE has contributed significantly to the discovery of both rare and common variants. “The common variants determine our place on the normal distribution curve of physiological function,” Kári noted. “They are accountable for normal human diversity, and are therefore very important. Rare variants can be looked at as accidents of evolution, but they can be very informative when it comes to perturbing normal function and identifying new biochemical pathways.”
deCODE scientists have identified scores of both rare and common variants linked to common disease. A partial list includes Alzheimer’s disease, coronary artery disease, cardiac arrhythmias, osteoporosis, asthma, Parkinson’s disease, and various cancers. deCODE’s insights have also extended to physical traits like height and obesity, as well as behavioral traits like smoking and addiction.
The company’s ability to make these important discoveries owes much to the Icelandic people’s support and participation in deCODE’s mission. That mission of fundamental genetic research didn’t change with the acquisition by Amgen, and in fact it has been enhanced by investments in next-generation DNA sequencing technology. deCODE continues to publish its findings in top-tier science journals.
“Our success is due not only to the generosity of the people of Iceland, which has certainly contributed a lot,” Kári said. “The biggest reason for our success is the spectacularly talented group of people working at deCODE, who have done and continue to do extremely interesting science.”
This year’s ASHG meeting also featured two presentations by Amgen post-docs on research into the potential of human genetics to predict drug side effects and human genetics related to heart disease. Data from these presentations will be shared when the relevant papers are published.