February: Editing the book of life with molecular scissors

Life's code is written in A's (adenine), T's (thymine), C's (cytosine) and G's (guanine), the letters representing the four nucleotides within the deoxyribonucleic acid (DNA) that directs the action of a cell from its nucleus. Three billion of these letters paired in two strands spell out the human genome sequence, a code scientists study every day looking for the causes of disease.   Thanks to ongoing research, we understand a lot about our DNA code.  We can read each person's unique sequence and analyze what differences among people cause disease.  But the ability to edit this book of life, and change a person's 'bad DNA' to 'good DNA' to treat disease, have proven difficult. Read more

January: Fitting the National Archives in your pocket

Nick Goldman, Ph.D., and Ewan Birney, Ph.D., researchers at the European Bioinformatics Institute in Hinxton, UK, wandered off on a tangent over a couple of beers, and instead of their usual mission of decoding genomic information, they decided to try the opposite problem: encoding information in DNA. The January Genome Advance of the Month features an article that began as a somewhat facetious idea for where to store big data. Read more

December: The Power of Sequencing Single Cell Genomes

As the fundamental unit of life, each cell contains a complete copy of an organism's genome, which can undergo dynamic DNA mutations as the cell grows and divides. Studying the genomes of single cells is important for tracking global patterns of change across hundreds or thousands of individual cells, and will help to elucidate changes that occur in DNA over time. In this issue of Genome Advance, we focus on a novel technique that allows researchers to accurately sequence a single cell. Read more

November: Food for thought

If "you are what you eat," we must better understand our food to keep ourselves healthy. After all, food that we consume is quite literally the building blocks for cells in the body. In November, researchers from around the world published studies in evaluating the potential of genomics to improve our diets. So, in the spirit of the holiday feasts, this Genome Advance of the Month focuses on articles that ask, "What's for dinner?" Read more

October: Do genes make us keep our fat jeans?

Why can't we keep the weight off? In the Journal of Clinical Investigation, Viviana F. Bumaschny, M.D., Ph.D., from the University of Buenos Aires, and her collaborators, sought to answer that question. Changing a gene in mice, watching how much they ate and tracking their weight may have provided the answerRead more

September: Deciphering Function in the Human Genome

The September Genome Advance of the Month explores the results of The ENCODE Project, as reported in 30 coordinated papers published in the September 6, 2012, issues of Nature, Genome Research and Genome Biology, along with additional ENCODE-funded papers in Science, Cell and Nucleic Acids Research. These journals highlight an initial analysis of 15 trillion bytes of raw data, generated from 1640 datasets that involve 147 cell types. Read more

August: Whole genome sequencing used to track infection's transmission path

Using whole bacterial genome sequencing to trace the transmission of a hospital-acquired infection is this month's genome advance of the month, a potentially important breakthrough for hospital epidemiology. Read more

July: A Genetic Fountain of Youth?

This month's Genome Advance of the Month compares newborns and centenarians to see if epigenetic changes, or alterations in the signals on the genes rather than the genes themselves, could be associated with aging. Is this the genetic Fountain of Youth? Read more

June: The Human Microbiome Project: Extending the definition of what constitutes a human

The June Genome Advance of the Month discusses how Human Microbiome research is demonstrating that the microbiome - the normal bacteria that live in and on us - is a major genetic signal in humans, contributing key properties essential to human function. Learn how these bacteria are not invaders but beneficial colonizers who ultimately care for our health. Read more

May: Researchers view DNA through 3D lens

This month's Genome Advance of the Month explores two studies - one uncovering a functional role of DNA in chronic pain and another manipulating DNA to form useful shapes - both advances that translate 2D data into 3D thinking that may improve our 4D lives.
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April: Uncovering the Archeological Landscape of Cancer Genomes

This month's Genome Advance of the Month focuses on three studies highlighting the extraordinary potential of genomics in illuminating the genetic and epigenetic changes that induce a normal cell to become cancerous, guiding the development of more effective diagnostics and treatments. Read more

March: Harnessing the full 'omics potential of personalized medicine

This month's Genome Advance of the Month focuses on a study by Stanford University's Michael Snyder, Ph.D. which demonstrated an integrative personal omics profile (iPOP) approach to personalized medicine can identify disease risks from a genomic sequence and can monitor disease states through other molecular components. Read more

February: Discovering the Mutants Among Us

Last year, the Sanger Institute boldly announced "We are all mutants" when a study was published showing healthy individuals carry around 60 new mutations from their parents. However, not all of these mutations are meaningful, as some may fall in regions of the genome without any currently known function. The next Genome Advance of the Month focuses on a particular class of mutations: "loss-of-function (LoF) variants". Read more

January: When cellular power plants go bad

The January genome advance of the month focuses on the using DNA sequencing to diagnose severe and confounding mitochondrial diseases. As many as 4,000 children in the United States are born with mitochondrial dysfunction every year. Researchers have identified 77 genes known to cause mitochondrial diseases, but the culprit gene remains elusive. Read more

December: Population genomics: Answering questions from the microscopic to the geographic

The final Genome Advance of the Month for 2011 is actually a twofer, highlighting how population genomics can be used to answer questions in the diverse fields of vascular biology and anthropology. Read more

November: Massively parallel sequencing: Taking an all-at-once approach to genetic testing in cancer

Thanks to the decrease in time and cost to analyze genes, scientists now are taking a broader approach by sequencing and analyzing multiple cancer-causing genes at once. Genome Advance of the Month details exactly such an approach, developed at the University of Washington School of Medicine in Seattle. Read more

October: Dissecting the cause of the Black Death

At the end of October, a group of scientists from Canada, Germany, and the United States published a paper that marries the fields of genomics, public health and archeology. The October Genome Advance of the Month reports on how they were able to sequence the genome of the bacteria responsible for the Black Death, a plague that swept Europe from 1347-1351, killing between 30 and 50 percent of the population. Read more

September: Trauma regulates genes that predict survival

This month's Genome Advance of the Month describes genomic pathways that influence survival after a life-threatening traumatic injury. Read more

August: Teaching Old Drugs New Tricks

The August Genome Advance of the Month spotlights two studies by Stanford University's Atul Butte M.D., Ph.D., that repurposed old drugs as new treatments for lung cancer and inflammatory bowel disease. Read more

July: Proteus: Discovering the tiniest disease-causing flaws - and improving sequencing technologies

Proteus, a sea-god from Greek mythology, could change his shape to improve his fortunes. People suffering the syndrome that bears his name are not so lucky and the cause of their plight has been as mysterious as the disease can be debilitating. NHGRI's Genome Advance of the Month for July, however, provides the answer. Read more

June: Transforming clinical care with whole genome sequencing

The June issue of Science Translational Medicine reported on fraternal twins from California, a brother and sister, who suffer from two inherited genetic mutations that threatened to impede or even prematurely end their lives. June's Genome Advance of the Month features how whole genome sequencing at the Human Genome Sequencing Center at Baylor College of Medicine, Tex. - one of three facilities that comprise NHGRI's large-scale genome sequencing program - led to the discovery and treatment that transformed their lives. Read more

May: Protecting the food supply and human health with genomics

The May Genome Advance of the Month is torn from the headlines about how the genomics revolution is protecting the public health - especially when it comes to food. A new strain of E. coli has caused an epidemic of food poisoning in Germany. As of June 7, 2011, more than 2,500 people have been sickened, 23 people have died and public health officials still do not know the source of the food contamination. Read more

April: Using DNA Sequencing to Detect Early Organ Transplant Rejection

For people who have received an organ transplant - a heart or a kidney, for example - detecting rejection early can significantly improve their long-term health, even survival. But until now, doctors have had a hard time monitoring the health of transplanted organs; detecting rejection has required invasive - and risky ­­biopsies. A novel application of genome-sequencing technology developed by a group of researchers at Stanford University may soon solve that problem. Read more

March: Sequencing Insights Into Multiple Myeloma

For the March Genome Advance of the Month, NHGRI has selected a study that shows how the power of sequencing technology has generated an important discovery, even when studying a relatively small number of patients, in this case only 38. The study, published in the March 24, 2011 issue of the journal Nature, describes how a nationwide team of researchers organized by Todd R. Golub, M.D., director of the cancer program at The Eli and Edythe L. Broad Institute in Cambridge, Mass., made several new discoveries about the genetic causes of multiple myeloma. Read more

February: UDP Discovers a new disease

An awful lot of cool science happens here at the National Institutes of Health (NIH), but it's not every month that someone discovers a new disease. In February, the Undiagnosed Diseases Program (UDP) reported its first new diagnosis in the New England Journal of Medicine. Read more

January: The Biology of Living Longer

The ability to reverse or halt the aging process has long held allure, from early human mythology to Oscar Wilde (The Picture of Dorian Gray) through to Indiana Jones (Indiana Jones and the Last Crusade). It's also been the subject of considerable scientific study.In January 2011, a paper published in the journal Nature has shown, for the first time, a possible biological mechanism where halting the aging process might be possible. Read more