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Biotech Revelations about human genes usher in era of research

For German-born Toni Schuh, the recently published interpretation of the human genome sequence ushers in a new era of biotechnology.

“The completion of the human genome project is the start of the Oklahoma land grab on the genome,” said Schuh, the executive vice president of business development of Sequenom Inc. in San Diego.

Those biotechs with the best tools will win the race, he said.

But scientists agree that race will be daunting.

On Feb. 12, the journals Science and Nature published the breakthrough news that humans only had about 30,000 genes , two-thirds less than originally predicted.

That compares to 19,000 genes for the roundworm and 13,000 genes for the fruit fly.

Yet, while humans seem to have fewer genes than originally thought, their genes also appear to be far more complex.

“It’s a stunning discovery,” said Dr. Glen Evans, co-author of the Nature article and director of one of 20 genome sequencing centers involved in the multinational Human Genome Project.

The publicly funded project is rivaled by Celera Genomics, the Rockville, Md.-based biotech firm whose findings were published in Science.

Scientists reportedly also were surprised to have found no evidence that the human genome arose from two accidental doublings of the early animal genome.

Humans have four copies of the same gene vs. the fruit fly and ringworm, which only have one copy of the same gene.

Evans explained the implications: “If something goes wrong in the fruit fly, they die in humans if one gene goes wrong, we have a backup.”

Finding Keys To Diseases

Knowledge of which gene causes disease is the secret to curing many illnesses, determining a person’s genetic risk for disease and developing customized drugs.

San Diego-based firms, such as Sequenom and Illumina Inc., both developed technologies to screen thousands of genes for potential drug targets. They must then validate the genes thought to be associated with disease.

They mostly look at single nucleotide polymorphisms, called SNPs, or single changes in the sequence of a gene that make each person unique. These variants bear the key to disease.

At Sequenom, for instance, scientists compare SNPs of diabetics to one another to see which variant is associated with the disease, said Tom Baker, a spokesman for the company.

“The fact that there are fewer genes makes it (the process) more affordable,” Schuh said.

He declined to give a price.

Genes And Proteins

Jay Flatley, president and CEO of Illumina, said the new findings will also save costs by eliminating test redundancy.

But the real breakthrough is scientists now believe one gene may be responsible for several different proteins, Evans said.

Previously, the industry has looked at one gene coding for one protein, with some exceptions.

“This opens up the next frontier , proteomics,” Evans said.

In San Diego, biotechs active in proteomics include Structural GenomiX, Syrrx Inc., GeneFormatics, Triad, Structural Bioinformatics Inc. and Evans’ biotech firm, Egea Biosciences.

Flatley said knowing how parts of genes combine in making a protein , alternate splicing , is the next big opportunity.

So far, pharmaceutical firms have only made medicines from about 480 genes, said Evans. To develop customized drugs, biotechs need to identify more drug targets , genes that produce a protein to interact with a drug.

Scientists estimate the new information will help them identify between 5,000 and 10,000 drug targets. About 3,500 targets are known.

But Evans anticipates developing customized drugs will be more complicated than originally thought because of the greater complexity of genes.

He explained multiple exostosis, a disease that causes bones to grow abnormally, is caused by a change in any one of three similar genes.

“We can’t tell by looking at the gene which gene is responsible for the disease,” Evans said. “Seven or eight genes look exactly the same, but only three genes are related to the disease.”

Still, Evans believes the new findings will actually speed up drug development.

He is convinced Egea’s technology in development, which Evans said will be the “world’s largest gene factory,” will eventually help unravel the secrets of proteins

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