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Finnish Gene-Discovery Company JuriLab to Release SNP Chips, Mine for Mutation Gold

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With its headquarters in the middle of the Lake Kallavesi archipelago, genetic-discovery company JuriLab is situated in the heart of Finland. Never mind that the archipelago and the city on its shores, Kuopio, is only a few hundred miles shy of the Arctic Circle — worlds away from most of the world’s big pharmas.

The company, which was established back in 1986 as a spinout of the Kuopio University’s Research Institute of Public Health, hopes to capitalize on the trove of relatively homogenous founder populations in Finland, as well as other northern European populations.

While other companies above 55 degrees north latitude — chief among them DeCode Genetics, based in Iceland, and Estonia-based EGeen — have also embraced this strategy, JuriLab’s possible ace in the hole is its access to DNA and tissue samples in several well-characterized population studies.

One of these studies, the Kuopio Ischemic Heart Disease Risk Factor Study, is a prospective population-based study of biological, psychological, and socioeconomic cardiovascular risk factors of middle-aged men. The study databank includes DNA samples collected beginning in 1984, along with data for 3,000 subjects and more than 6,000 phenotype measurements on each subject. It has been running since 1983 and has been funded by $15 million so far from the NIH and the Finnish government, which makes it the oldest population-based study of its kind, according to Jukka Salonen, the company’s CSO.

The Kuopio Ischemic Heart Disease Risk Factor Study is not unlike the Framingham Heart Study. Framingham Genomics, a population genomics company that proposed to examine the serum samples and clinical data from the Framingham Heart study, failed to get off the ground in 2000 because the study’s sponsor, Boston University, elected to deny its founders access to data.

But JuriLab has had no such problems due to Salonen’s intimate connection with the Kuopio Ischemic Heart Disease Risk Factor study: a professor of epidemiology at the University of Kuopio and an internationally known expert in the field of cardiovascular risk factors, he is also the principal investigator in the study.

Not only does the 30-person company have access to the DNA of patients from this study, “we have several sorts of tissue samples preserved, including blood, toenails, hair, adipose tissue, plasma, and serum,” said Salonen.

Additionally, Salonen said, “the company has access to more than a dozen similar population studies, in part through my academic collaborations,” but also through contracts. These include materials from Estonia, several countries in Asia, the US, and Canada. The company’s Estonian samples are not from that country’s national DNA bank, but from a narrower population-based study.

Using a technique called hierarchical phenotype targeted sequencing, company scientists last year found the DDAH 1 mutation, which is related to cardiovascular disease and diabetes. They have also more recently found two diabetes-related drug targets, said Salonen.

Hierarchical phenotype targeted sequencing, for which the company has patents pending in the US and Europe, involves starting with information concerning a specific phenotype in a larger population, rather than looking for the SNPs blindly then trying to correlate them to phenotype.

“We take both extremes of the phenotype and sequence those [samples] with the extremes to find new SNPs, and then genotype those SNPs in that material,” Salonen said. “We have been quite successful in doing this.” Of course, he added, this technique only works when there is known information about the function of the genes from which the SNPs are being isolated.

Meanwhile, the company has developed its first SNP chip, a drug metabolism cytochrome p450 chip, which is currently in beta testing and is due out at the end of the year, according to company representative Chris Devine, who was at the company’s booth at BioAnalytica in Munich earlier this month. The company is also developing a SNP microarray for coronary heart disease risk factors, and has a couple of other products that are “early in the pipeline,” Salonen said.

In addition to selling these chips, JuriLab is using them in studies of its populations, to correlate SNPs to clinical phenotype. To support its efforts, the company also provides a lab service, in vivo detection of oxidative stress, a marker of susceptibility to cardiovascular disease. But like other population genomics companies, JuriLab hopes that the targets it finds through its population-wide screening will yield much richer rewards.

— MMJ

 

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