As healthcare moves toward genetically tailored treatments, one of the biggest hurdles to truly personalized medicine is the lack of fast, low-cost genetic testing.
And few people are more familiar with the problems of today’s genetic diagnostics tools than Kalim Mir, the 52-year-old founder of XGenomes, who has spent his entire professional career studying the human genome.
“Ultimately genomics is going to be the foundation for healthcare,” says Mir. “For that we need to move toward a sequencing of populations.” And population-scale gene sequencing is something that current techniques are unable to achieve.
“If we’re talking about population scale sequencing with millions of people we just don’t have the throughput,” Mir says.
That’s why he started XGenomes, which is presenting as part of the latest batch of Y Combinator companies next week.
A visiting scientist in Harvard Medical School’s Department of Genetics, Mir worked with the famed Harvard professor George Church on a new kind of gene sequencing technology that promised to conduct sequencing at higher speeds and far lower costs than anything that was on the market.
The costs of sequencing a genome have come down significantly in the 19 years since the Human Genome Project successfully completed its project for $1 billion.
These days, gene sequencing can take a couple of days and cost around $1,000, Mir says. But with XGenomes, Mir hopes to drive the cost of testing down even further.
“We developed a way where we’re sequencing directly on the DNA where we’re not manipulating it except for opening up the double helix,” says Mir.
Running a startup focused on conducting gene sequencing at population scales is not where Mir thought he’d be when he was growing up in Yorkshire in Northern England. “When I was in school there, I was not into science or tech. I was interested in literature,” he recalls.
That changed when he read Aldous Huxley’s Brave New World and began thinking about the implications of genetic manipulation that the book presented.
Mir went on to study molecular biology at Queen Mary College and upon graduation worked in a biotech company in the U.S.
After returning to England to complete his doctorate in the mid-90s, Mir worked with the geneticist Edwin Southern on the foundational science that now form the core of testing technologies like 23andMe, Illumina, and Affymetrix.
Xgenomes technology works by unzipping strands of DNA and then sequencing the strands concurrently.
“I like to think of the genome as a book. The genome has chapters and the chapters could be the chromosomes,” says Mir. “Current technologies read it letter by letter. [But] we’re recognizing words.”
The company is able to accomplish this feat by using optical imaging technologies. Samples are treated with reagents that are then excited by lasers. XGenomes tech then “reads” the bits of DNA that are highlighted and identifies them.
Using this new tech, Mir thinks he can ultimately sequence a full genome in one to two hours and for as little as $100.
That would be a sea change in the way that testing is conducted and could bring about the rapid throughput of sequencing that Mir says is needed to make the vision of truly personalized medicine a reality.
from TechCrunch https://ift.tt/2Y0lGzd
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