Sequencing Technique Detects Earliest Signs of Genetic Mutations Underlying Cancer, Aging, and More
NIH Director's Blog » Sequencing
by Dr. Monica M. Bertagnolli
3M ago
Every day, billions of cells in your body divide, each producing two daughter cells. It’s an essential process for your tissues and organs to renew themselves and remain healthy. To do it, cells must first duplicate their DNA to ensure that each daughter cell gets an accurate copy. In this process, mistakes are inevitably made. Most DNA errors are accurately fixed and do not lead to mutations. But when small errors akin to single-letter typos aren’t corrected, they can become permanent in a cell and multiplied with each subsequent cell division. Even cells that don’t divide, such as neurons i ..read more
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All of Us: Release of Nearly 100,000 Whole Genome Sequences Sets Stage for New Discoveries
NIH Director's Blog » Sequencing
by Joshua Denny, M.D., M.S., and Lawrence Tabak, D.D.S., Ph.D.
2y ago
Nearly four years ago, NIH opened national enrollment for the All of Us Research Program. This historic program is building a vital research community within the United States of at least 1 million participant partners from all backgrounds. Its unifying goal is to advance precision medicine, an emerging form of health care tailored specifically to the individual, not the average patient as is now often the case. As part of this historic effort, many participants have offered DNA samples for whole genome sequencing, which provides information about almost all of an individual’s genetic makeup ..read more
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Genome Sequencing: Exploring the Diagnostic Promise
NIH Director's Blog » Sequencing
by Dr. Francis Collins
2y ago
Caption: Whole genome sequencing revealed that sisters Addison and Trinity Hanners, ages 7 and 10, shown here with their mother Hanna, have a rare syndrome caused by a mutation in the MAGEL2 gene. Credit: Courtesy of the Hanners family At the time that we completed a draft of the 3 billion letters of the human genome about a decade ago, it would have cost about $100 million to sequence a second human genome. Today, thanks to advances in DNA sequencing technology, it will soon be possible to sequence your genome or mine for  $1,000 or less. All of this progress has made genome sequencing ..read more
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Taking a New Look at Artificial Sweeteners
NIH Director's Blog » Sequencing
by Dr. Francis Collins
2y ago
Diet sodas and other treats sweetened with artificial sweeteners are often viewed as guilt-free pleasures. Because such foods are usually lower in calories than those containing natural sugars, many have considered them a good option for people who are trying to lose weight or keep their blood glucose levels in check. But some surprising new research suggests that artificial sweeteners might actually do the opposite, by changing the microbes living in our intestines [1]. To explore the impact of various kinds of sweeteners on the zillions of microbes living in the human intestine (referred to ..read more
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New Strategies in Battle Against Antibiotic Resistance
NIH Director's Blog » Sequencing
by Drs. Anthony S. Fauci and Francis S. Collins
2y ago
Caption: Colorized scanning-electron micrograph showing carbapenem-resistant Klebsiella pneumoniae interacting with a human white blood cell. Credit: National Institute of Allergy and Infectious Diseases, NIH Over the past year, the problem of antibiotic resistance has received considerable attention, with concerns being raised by scientists, clinicians, public health officials, and many others around the globe. These bacteria are found not only in hospitals, but in a wide range of community settings. In the United States alone, antibiotic-resistant bacteria cause roughly 2 million infection ..read more
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Secrets of a Supercentenarian’s Genome
NIH Director's Blog » Sequencing
by Dr. Francis Collins
2y ago
Caption: Hendrikje van Andel-Schipper (2nd from the left) in her youth. She was born June 29, 1890, premature and so tiny that no one thought she would survive. However, she lived to be 115. Credit: Ramon Schipper Not too long before 115-year-old Hendrikje “Hennie” van Andel-Schipper died in 2005, this Dutch “supercentenarian” attributed her remarkable longevity to eating raw salted herring, to drinking orange juice, and—with a twinkle in her eye—“to breathing.” Because very few humans have survived as long Hennie, it’s only logical to ask whether some of the secrets to her impressive lifesp ..read more
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