Posts Tagged ‘x78notcore’
2016 News Feature: NIH supports new approaches to discovering DNA differences in the genome’s regulatory regions that affect disease – National Human Genome Research Institute (NHGRI)October 7, 2016
The splicing code is just one part of the noncoding genome, the area that does not produce proteins. But it’s a very important one. Approximately 90 percent of genes undergo alternative splicing, and scientists estimate that variations in the splicing code make up anywhere between 10 and 50 percent of all disease-linked mutations. “When you have mutations in the regulatory code, things can go very wrong,” Frey said.
“People have historically focused on mutations in the protein-coding regions, to some degree because they have a much better handle on what these mutations do,” said Mark Gerstein, a bioinformatician at Yale University, who was not involved in the study. “As we gain a better understanding of [the DNA sequences] outside of the protein-coding regions, we’ll get a better sense of how important they are in terms of disease.”
Scientists have made some headway into understanding how the cell chooses a particular protein configuration, but much of the code that governs this process has remained an enigma. Frey’s team was able to decipher some of these regulatory regions in a paper published in 2010, identifying a rough code within the mouse genome that regulates splicing. Over the past four years, the quality of genetics data — particularly human data — has improved dramatically, and
machine-learning techniques have become much more sophisticated, enabling Frey and his collaborators to predict how splicing is affected by specific mutations at many sites across the human genome. “Genome-wide data sets are finally able to enable predictions like this,” said Manolis Kellis, a computational biologist at MIT who was not involved in the study.
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.
Turkish TV documentary of Zeynep H. Gümüş, with brief quotes by MG at 20′ 15″
The decision applies only to researchers funded by NIH, which said it
"encourages" other scientists to abide by the agreement. Because
DNA-sequencing technology is cheap and ubiquitous in genetics labs,
the HeLa genome has been partly sequenced many times, and can easily
be fully sequenced again.
"Sequencing" refers to determining the precise order of the chemical
letters on a person’s genome, which is the full library of his or her
genetic information. Bits and pieces of that sequence spell out, for
instance, whether someone is at risk of diabetes or Alzheimer’s or
other genetic traits, as well as personal traits like the consistency
of ear wax.
These loopholes in the access agreement significantly weaken the NIH
move, said Mark Gerstein, a computational biologist at Yale University
who has raised concerns about threats to genetic privacy. "I doubt NIH
will get blanket agreement from scientists in every country" to follow
its protocol, "so it’s not clear what the agreement will be able to