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Biotech Mouse genetics give clues to curing human diseases

Biotech: Scientists Say Method Speeds Up

Long Discovery Process

San Diego-based Sequenom Inc. and the Genomics Institute of the Novartis Research Foundation have joined forces to unravel genetic differences in the mouse genome aiming to find drug targets associated with human disease.

Scientists at Sequenom and the La Jolla-based Genomics Institute plan to validate a recently published set of genetic variations, called single nucleotide polymorphisms (SNPs), in the mouse genome; map unknown locations of SNPs and integrate different genetic maps of the mouse.

This could lead to a big payoff, considering the rapidly growing SNP-detection market, said Charles Duncan, an analyst with Prudential Vector Health Care Group in Deerfield, Ill., and New York City.

“Right now the market is pretty small , less than $100 million in annual revenues worldwide,” Duncan said.

He projected that by 2006, the SNP-detection market may exceed $500 million. Comparative genomics is emerging as an area of interest, Duncan said.

The mouse genome especially may reveal interesting clues. That’s because it is about 80 percent identical to the human genome.

Human Factors

Ultimately, scientists hope to use the information from the mouse genome to identify genes associated with human disease, such as Alzheimer’s and Parkinson’s disease.

But it will take many years, said Toni Schuh, president and CEO of Sequenom.

“When you find a gene that makes a mouse sick, there is a certain likelihood a similar gene makes humans sick,” Schuh said. “But medical utility is something you can only prove in human beings.”

By studying the mouse genome, however, scientists can significantly speed up the drug discovery process, Schuh said.

“(In mice) you have the advantage that you can generate multiple generations, you can backcross them (all that) gives you so much additional information,” he said.

Sequenom will develop the complex tests for Novartis to analyze the SNPs.

The tests can be repeatedly used until scientists nail down which gene is associated with which disease, Schuh said.

Important Validation

And that will be an important validation for the company, Duncan said.

“It provides further external validation of the potential value of their technology platform for conducting genetic variation analysis (or SNP detection),” Duncan said.

Schuh didn’t offer financial details of the agreement. He also declined to say how much Novartis paid for Sequenom’s system.

Typically, Sequenom charges clients between $450,000 and $500,000 for its system, he said.

In addition, Sequenom gets paid for each developed test and shares intellectual property rights with Novartis, Schuh said.

Duncan said near-term revenues are less important for Sequenom at this time than gaining validation.

“We think the primary driver will be more widespread adoption of genetic variation analysis in drug discovery and drug development and potential use in commercialization of pharmaceuticals,” Duncan said. He added Sequenom is presently the leader in that field.

Other firms working on SNP-detection include Orchid BioSciences Inc. in Princeton, N.J., Pyrosequencing AB in Uppsala, Sweden, Variagenics Inc. in Cambridge, Mass., and Celera Genomics in Rockville, Md.


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