Medical research thrives on data. With Iceland, scientists get an ethnically homogeneous population of just over 300,000. Decoding Iceland’s genome allows researchers to draw direct lines between genes and diseases.
The research has also shed new light on genetic variability, even among similar people.
The journal Nature Genetics published a myriad of pieces on the new research. Amgen’s DeCode Genetics, a biopharmaceutical company based in Iceland, funded an effort to study genetic abnormalities and their mortality rates.
Genetic abnormalities that were once thought of as rare and led to early death are actually more common than previously thought. They are not the death sentences we previously thought.
DeCode’s team also discovered new genetic contributors to liver disease, atrial fibrillation and Alzheimer’s disease. The new data will be used in further genetic research to hopefully find cures for a variety of diseases.
The researchers fully sequenced the genomes of more than 2,500 Icelanders, and compared it with less complete genotype data of 104,00 Icelanders. The result? The tiny island nation has more than 20 million genetic variations.
In a nod to Iceland’s extensive record keeping, DeCode’s researchers were able to cross-check the current genome data with genealogical and older health records. This allowed the team to see how a disease would run it’s course through an entire family.
Something tells me having an Ancestry.com account in Iceland is the easiest web search in the world.
Genetics and Disease
The study isn’t just for the cool factor. It will have immediate, real-world impact. DeCode’s President Kari Stefansson said the research will allow researchers to monitor how a disease emerges from each genetic variation.
Understanding the twists and turns a disease makes through our genome will allow for targeted treatments. It will also allow scientists to find which genetic variations offer protection against certain diseases. It opens up the world of gene therapy.
In addition to the DeCode genome sequencing, a paper was published on the search for genetic knockouts – gene deletions that were previously thought to be harmful to the carrier. In total, more than 8,000 Icelanders had 1,171 genetic knockouts. It suggests the working theory of gene deletion being harmful to a person is highly dependent on the gene’s location and function.
The most common genes that were knocked-out? Those that helped participants discern different smells were the most common genetic deletions. While annoying, this genetic deletion isn’t harmful. Less common were genetic knockouts in the brain.
Why? Genes highly expressed in the brain that are deleted would make for a bad day. Missing your sense of smell would be annoying as hell. Missing an important gene in your brain changes the complexity of your health in ways that are uniformly bad.
Stringent Record Keeping
This research relies heavily on the commitment of Iceland and Scandinavian countries such as Finland and Sweden being committed to solid record keeping. It is instrumental in tracking genetic variations that may lead to treatments and cures.
The barb here? The United States should be doing the same. None of our health records are centralized, and our country is a beacon of genetic diversity. Ethnically, we are wildly diverse and would be a treasure trove of information for researchers.
I know, half the country hates the Affordable Care Act. But, it’s insistence on moving to electronic health records could be the key to unlocking our genetic future.
The Icelandic research is groundbreaking, but if we want all the data, there needs to be diversity. There’s not a better place than the United States.
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