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Genome Advance of the Month

Genomics has become a fast-moving field, with findings pouring out of labs all over the world. Each month, the National Human Genome Research Institute will highlight what it considers the coolest genomic advances, broadly defined, of the previous month.

2014

May: Researchers probe inner workings of ancient human genomes, compare them to humans
Ancient and modern man

Recent advances in the study of ancient genomes and their patterns of decay now allow scientists to study parts of the epigenetic code in our ancient forbears so that we can compare it to patterns seen in present-day humans. May's Genome Advance of the Month describes a study in Science that reconstructed parts of the epigenetic code in both Neanderthals and Denisovans. The changes they discovered may have led to our modern forms, adding another page to the story of human evolution. Read more

April: The Y chromosome: beyond gender determination
X and Y Chromosomes

The Y chromosome is critical; it contains the genes necessary to override the biological default - female development - and create the male reproductive system. But research has shown that it is undergoing rapid evolutionary deterioration. April's Genome Advance of the Month highlights two studies that explore the evolutionary path of the Y chromosome, demonstrate its stability over the past 25 million years and suggest it may be here to stay. Read more

March: First designer yeast chromosome opens door to reengineering cells
Yeast Cells

In the March Genome Advance of the Month, we learn how scientists have redesigned the species of yeast - Saccharomyces cerevisiae - that is instrumental in winemaking, baking and brewing. Researchers have created a blueprint for a sleeker sequence that can be rearranged on command. The end result is a synthetic chromosome called synIII, which functions correctly when inserted into a host yeast cell. Read more

February: Circulating tumor DNA: A new generation of cancer biomarkers
DNA double helix in bloodFebruary's Genome Advance of the Month describes a new study, published in the February 19, 2014, issue of Science Translational Medicine, which examines the potential of screening ctDNA for somatic mutations as a way to detect and follow the progression of a patient's tumor. More studies are needed, but this research demonstrates the immense potential of ctDNA to improve the early detection and treatment of cancer. Read more
January: The evolutionary mark of Y. pestis and the Black Death
Yersinia pestisThe course of human history has been shaped not only by human thoughts and actions, but also by our interactions with the surrounding environment. This includes the trillions of microscopic viruses and bacteria that beset us on a daily basis and which, prior to the advent of 20th century medicine, were a significant contributor to disease and mortality.  January's Genome Advance features two studies that use genomics to explore the role of the Yersinia pestis (Y. pestis) bacterium in two historic plague pandemics and its evolutionary mark on the human genome. Read more

2013


December: Multi-tasking DNA: Dual-use codons in the human genome
Letters of A T C GWhat are all the intricacies of how the human genome functions? The completion of the Human Genome Project (HGP) did not mean a complete understanding of what all those As, Cs, Ts and Gs meant in terms of our biology. December's Genome Advance of the Month highlights how researchers are trying to understand how our genome works and how tiny differences account for wide diversity among us. Read more
November: Pilot study eyes implications of ACMG stance on incidental findings
Doctor and patientNovember's Genome Advance of the Month highlights a pilot study that discusses reporting incidental findings from genome or exome sequencing to patients, the impact on the healthcare system, and the growing need for an adequate clearinghouse that healthcare providers can use  in clinical care to identify harmful mutations. Read more
October: To sequence the exome or the genome: that is the question
Retina DegenerationThe October Genome Advance of the Month highlights a study, published in the October 1, 2013, issue of Proceedings for the National Academy of Sciences, which demonstrates the advantages of whole genome sequencing versus whole exome sequencing in the identification of autosomal recessive retinitis pigmentosa - an inherited disease that ultimately leads to blindness. Read more
August: The X and Y of human origins: Using Y chromosome sequencing data to explore human evolution
Y Chromosome The August Genome Advance of the Month discusses two papers published in Science that reveal the ability to sequence the Y chromosome, a relatively recent development in genomics research. The male-specific portion of the Y chromosome is "a powerful tool with which to study human history" and determine when the most common male ancestors existed. Read more
July: Alzheimer's disease: Putting the pieces together with integrative genomics
Illustrated human head with DNA helicesFive percent of those with Alzheimer's disease develop it between the ages of 30-65 as a result of any one of several rare, inherited, single-gene mutations. But the large majority of affected individuals develop a non-familial form after the age of 65, called late-onset Alzheimer's disease (LOAD). July's Genome Advance of the Month describes a study, published in the August 1, 2013, issue of Nature, which combined several genomic methods to identify important regulatory processes that link the common genetic variation APOE4 to the development of LOAD. Read more
June: Close encounters of the microbial kind
Microbial biofilm of mixed species from human body. From A. Earl (Broad Institute/MIT, 2012)Some researchers believe that the human microbiome contributes more essential genes to ensure our survival than our own genomes. June's Genome Advance of the Month highlights a study that indicates the genomes of humans and microbes may be even more entwined than researchers previously thought. Read more
May: Child abuse leaves epigenetic marks
Child with a teddy bear. Photo by:  Jojof/photos.comChild abuse is a serious national and global problem, cutting across economic, racial and cultural lines. Yearly, more than 1.25 million children are abused or neglected in the United States, increasing to at least 40 million worldwide. New research, published in the May 14, 2013 Proceedings for the National Academy of Sciences, shows that PTSD patients abused as children have different patterns of DNA methylation and gene expression compared to those who were not. Read more
April: Digging into the past to uncover the cause of our cavities
Dental plaque illustratedToday, cavities and gum disease are major health problems for childrend and adults. Yet archaeological evidence shows that cavities were rare in prehistoric humans or "cavemen." April's Genome Advance of the Month highlights a study published in Nature Genetics that examined how the evolution of the human diet might have altered our natural ability to fight off cavities. Read more
March: Grabbing hold of cells and tissues with zinc fingers
Zinc fingersZinc fingers are a potential tool in certain disease therapies because they could target defective copies of genes. This month's Genome Advance of the Month describes new uses for zinc fingers to improve researchers' ability to study the processes of single cells and the interactions between larger groups of cells. Read more
February: Editing the book of life with molecular scissors
DNA double helix with a pair of scissorsLife'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
DNA encoding 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

2012

December: The Power of Sequencing Single Cell Genomes
Single cell and a DNA helixAs 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
Family around dinner tableIf "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?
One overweight and one skinny mouseWhy 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
ENCODE logoThe 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
BacteriaUsing 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?
Illustration with a tree next to four individuals from different age groups. Courtesy of National Institute on Aging, NIHThis 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
Human silhouette with bacteriaThe 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
Man silhouette with bacteria in the backgroundThis 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.
Read more
April: Uncovering the Archeological Landscape of Cancer Genomes
Cancer GenomicsThis 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
Michael Snyder, Ph.D.  Credit: Stanford School of MedicineThis 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
Mutation illustrated on a DNA modelLast 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
MitochondrionsThe 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

2011

December: Population genomics: Answering questions from the microscopic to the geographic
People 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
HiSeq groupThanks 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
Art depicting plagueAt 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
A patient being rushed to the ERThis 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
Pill bottle with DNA double helix on the labelThe 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
Drawing of the Greek sea-god ProteusProteus, 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
Beery FamilyThe 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
E. ColiThe 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
Human heartFor 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
Myeloma cellsFor 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
UDP researchers and patientsAn 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
Ronald DePinho talks about his research in reversing the aging process on The Colbert ReportThe 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

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Last Updated: June 30, 2014