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Sequenced genomes reveal mutations that disable single genes and can point to new drugs.

Ewen Callaway

28 October 2014 Corrected:
29 October 2014

http://www.nature.com/news/geneticists-tap-human-knockouts-1.16239

You should also read the Corrections to this article
http://www.nature.com/news/geneticists-tap-human-knockouts-1.16239#/correction1

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The poster child for human-knockout efforts is a new class of drugs that block a gene known as PCSK9 (see Nature 496, 152–155; 2013). The gene was discovered in French families with extremely high cholesterol levels in the early 2000s. But researchers soon found that people with rare mutations that inactivate one copy ofPCSK9 have low cholesterol and rarely develop heart disease. The first PCSK9-blocking drugs should hit pharmacies next year, with manufacturers jostling for a share of a market that could reach US$25 billion in five years.

“I think there are hundreds more stories like PCSK9 out there, maybe even thousands,” in which a drug can mimic an advantageous
loss-of-function mutation, says Eric Topol, director of the Scripps Translational Science Institute in La Jolla, California. Mark Gerstein, a bio­informatician at Yale University in New Haven, Connecticut, predicts that human knockouts will be especially useful for identifying drugs that treat diseases of ageing. “You could imagine there’s a gene that is beneficial to you as a 25-year-old, but the thing is not doing a good job for you when you’re 75.”

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http://www.courant.com/health/hc-jackson-laboratory-20141002-story.html

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The facility is funded in part by $291 million from the state through a legislative act passed three years ago, largely along party lines. In general, Democrats backed the plan by Gov. Dannel P. Malloy’s administration, and Republicans said it was too much money in exchange for 300 jobs over the course of a decade.

…
About 150 people work at the Farmington location, most of them hired in the past 16 to 18 months,said Charles Lee, director of the Jackson Laboratory for Genomic Medicine.

…

Last week, as Lee arrived by plane in Seoul, Korea, to check on a collaborative research project there, he was greeted at the airport by media reporting on a recent announcement that Lee is a 2014 Thomson Reuters Citation Laureate, meaning that he is a strong contender this year for a Nobel Prize in physiology or medicine. Nobel winners will be announced Oct. 6.

…

The lab is headquartered in Bar Harbor, Maine, and it has another location in Sacramento, Calif. All told, the laboratory has an annual budget of $262.4 million for fiscal year 2014 and employs more than 1,500 people, mostly in Maine.

Much of its revenue — $165.3 million — comes from the JAX Mice & Clinical Research Services through its sale of mice to other researchers. Jackson Laboratory in Bar Harbor ships more than 3 million mice annually to researchers around the globe, Lee said.

The lab also received $69.6 million in public support, including grants and contracts in fiscal year 2014. The rest of its budget is funded by contributions and other sources.

In 10 years or so, the Farmington facility could become a $70 million-to-$75 million operation, said Mike Hyde, a spokesman for The Jackson Laboratory.

…

Jackson is partnering with various Connecticut hospitals and universities, too. Lee has reached out to researchers at Quinnipiac, Wesleyan and Yale.

“I already have a collaboration that’s funded by the NIH with Mark Gerstein, a full professor at Yale University,” Lee said. “I’m developing ties with Rick Lifton, who is the head of genetics at Yale.”

Perhaps the closest academic relationship, in proximity and in collaboration, is between Jackson and both the UConn Health Center and UConn School of Medicine.

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http://www.nytimes.com/2014/09/02/science/human-fly-worm-dna.html

http://www.thepncvoice.com/genomics-links-humans-insects/34865

http://yaledailynews.com/blog/2014/09/02/in-humans-worms-and-flies-shared-genetics/

http://vimeo.com/99816801

Turkish TV documentary of Zeynep H. Gümüş, with brief quotes by MG at 20′ 15″

article on cloud computing :

http://www.biocompare.com/Editorial-Articles/158629-Bioinformatics-Infastructure-Got-You-Down-Head-to-the-Cloud-Rent-a-Supercomputer/

http://www.genomeweb.com/informatics/people-news-robert-green-shashikant-kulkarni-rong-chen-mark-gerstein-and-more

Young Investigator for Ekta Khurana

http://www.genomeweb.com/genomeweb-feature-eighth-annual-young-investigators

http://chronicle.com/article/Still-Hunting-Medical/143221/

Paul Basken
The Chronicle of Higher Education