National Human Genome Research Institute

Posted: August 8, 2016 at 5:47 am

How much does it cost to sequence a genome? A question often posed to NHGRI staff is "How much does it cost to sequence a human genome?" This is a timely question, as human genome sequencing is expanding from research tool to major clinical diagnostic test. To help everyone understand the cost, NHGRI recently developed a summary and infographic called The Cost of Sequencing a Human Genome to clarify how the cost of generating a human genome sequence is calculated. Read the summary | Read the infographic Gut bacteria co-evolved with animal hosts, offers human evolution clues Based on the DNA sequence of a moderately conserved gene in all bacteria, researchers have found that bacterial strains diverged and began to evolve separately in the guts of humans and chimpanzees 5 million years ago, and in humans and gorillas 15 million years ago. These dates are similar to when humans and apes evolved into a new species. It may now be possible to determine if this mutually beneficial relationship between gut bacteria and their animal hosts contributed to the formation of a new species. A perspective on the research from NHGRI Senior Investigator Julie Segre, Ph.D., appeared in the July 22 issue of Science. Read the perspective | Read the study Researchers advance treatment possibilities for Gaucher, Parkinson's National Institutes of Health researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. These findings demonstrate how insights from a rare disorder can have direct relevance to the treatment of more common disorders. Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Parkinson's disease affects more than 1 million people in North America and 7-10 million people worldwide. The findings were published July 12 in The Journal of Neuroscience. Read more Progeria cure remains elusive but new therapeutic options are emerging Development of a cure for Hutchinson-Gilford progeria syndrome (HGPS), a rare disease that causes rapid aging in children, remains elusive, NIH Director Francis Collins, M.D., Ph.D., wrote in a July 12 editorial in Circulation. But therapeutic options are emerging, and there is momentum in the basic and clinical research communities. His comments appeared in the same issue as findings of a new clinical trial that combines three drugs for the treatment of HGPS. Read Dr. Collins' editorial Read about the clinical trial Media Availability Genetics of type 2 diabetes revealed in unprecedented detail A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published July 11 in the journal Nature, reveal the complexity of the disease in more detail than previously appreciated and also identify several promising targets for new treatments. Read more

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National Human Genome Research Institute

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