A listing of news releases from other National Institutes of Health (NIH) institutes and centers, academic and non-profit institutions, and scientists or scientific societies related to NHGRI-funded work.
- November 25, 2013: Dekker Lab re-imagines how genomes are assembled
From UMass Medical School: Scientists at UMass Medical School (UMMS) have developed a new method for piecing together the short DNA reads produced by next-generation sequencing technologies that are the basis for building complete genome sequences. Job Dekker, PhD, and colleagues have shown that entire genomes can be assembled faster and more accurately by measuring the frequency of interactions between DNA segments and by using their three-dimensional shape as a guide. Employing this technique, they have been able to place 65 previously unaccounted for DNA fragments in incomplete regions of the human genome. Details of the study appear online in Nature Biotechnology. The study was funded by NHGRI.
- November 25, 2013: Mount Sinai Researchers Identify Molecular Changes in the Brain that May Increase Risk for Multiple Sclerosis
From the Mt. Sinai Hospital: Researchers have long suspected that a combination of genetic and environmental factors conspire in the development of multiple sclerosis (MS), an inflammatory disease of the central nervous system that strips nerve cells of their protective myelin sheath. A new study, published today in the online issue of Nature Neuroscience, highlights some of the molecular pathways critical to the onset and progression of this disease. NHGRI helped fund the research.
- November 7, 2013: Cost-effective method accurately orders DNA sequencing along entire chromosomes
From the University of Washington: A new computational method has been shown to quickly assign, order and orient DNA sequencing information along entire chromosomes. The method may help overcome a major obstacle that has delayed progress in designing rapid, low-cost - but still accurate - ways to assemble genomes from scratch. Data gleaned through this new method can also validate certain types of chromosomal abnormalities in cancer, research findings indicate. The advance was reported Nov. 3 in Nature Biotechnology by several University of Washington scientists led by Dr. Jay Shendure, associate professor of genome Sciences. The research was supported in part by a grants from the National Human Genome Research Institute.
- November 4, 2013: Mutations linked to breast cancer treatment resistance
From the University of Michigan Health System: Researchers at the University of Michigan Comprehensive Cancer Center have identified a type of mutation that develops after breast cancer patients take anti-estrogen therapies. The mutations explain one reason why patients often become resistant to this therapy.The study appears online in Nature Genetics. The discovery stems from a program at the U-M Comprehensive Cancer Center called Mi-ONCOSEQ in which patients with advanced cancer have their DNA and RNA sequenced to identify all types of genetic mutations that could play a role in the cancer. NHGRI's Clinical Sequencing Exploratory Research (CSER) Consortium helped fund the research.
- November 1, 2013: NIH Scientists Identify a New Immunodeficiency Disease
From the National Institute of Allergy and Infectious Diseases: Scientists from the National Institute of Allergy and Infectious Diseases (NIAID) and National Human Genome Research Institute at the National Institutes of Health have identified a novel, genetic human immunodeficiency called PASLI disease. People with this disease have impaired immune responses, predisposing them to chronic infections and lymphoma, a form of cancer. After pinpointing the genetic cause of PASLI disease, researchers treated one patient with rapamycin, a drug approved by the Food and Drug Administration (FDA) to prevent transplant rejection. The therapy showed promise and will be further evaluated in other patients. The study appears in the October 28, 2013, online issue of Nature Immunology. NHGRI researchers contributed to the study.
- October 22, 2013: Whole exome sequencing takes new technology into the clinic
From Baylor College of Medicine: In a report in the New England Journal of Medicine, researchers at Baylor College of Medicine describe how a new genetic test called whole exome sequencing which determines the DNA sequence of the exons or protein-coding regions of thousands of genes simultaneously, using next-generation sequencing techniques, provided a diagnosis to 25 percent of the first 250 such patients referred to the Baylor Whole Genome Laboratory, demonstrating the value of such technology to individual patients. Funding for this work came from National Human Genome Research Institute.
- October 16, 2013: Genetic errors identified in 12 major cancer types
From the Washington University in St. Louis: Examining 12 major types of cancer, scientists at Washington University School of Medicine in St. Louis have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments. The research is published in the Oct. 17 issue of in Nature. The work was supported by grants from NHGRI.
- October 10, 2013: The Cancer Genome Atlas exposes more secrets of lethal brain tumor
From the MD Anderson Cancer Center: Five years after TCGA tackled glioblastoma multiforme (GBM), and now older and wiser, it has revisited glioblastoma, producing a broader, deeper picture of the drivers - and potential therapeutic targets - of the disease published in the Oct. 10 issue of Cell. TCGA is a joint project from NHGRI and the National Cancer Institute.
- September 26, 2013: New TCGA project finds cancer-driving changes shared across tumor types
From the MD Anderson Cancer Center: The Cancer Genome Atlas (TCGA), a massive collaborative effort tracking down the genomic abnormalities that drive cancer in 12 different organs, is now directing its research firepower to examine how those aberrations occur commonly across tumor types. TCGA is a joint project from NHGRI and the National Cancer Institute.
- September 25, 2013: Baylor, Stanford medical schools seek to improve clinical understanding of gene changes
From the Baylor College of Medicine: As gene sequencing technologies rapidly advance and new genomic data becomes available, so does the need for a better understanding and consensus on which gene changes are relevant to diagnosis and treatment.With a $8.4 million, four-year grant announced today from the National Human Genome Research Institute, researchers from Baylor College of Medicine and The Stanford University School of Medicine hope to address this need by creating a central resource.
- September 24, 2013:Other errors in genome accompany copy number variation
From the Baylor College of Medicine: Researchers at Baylor College of Medicine say in a report that appears online in the journal Nature Genetics, that the process of copy number variation (CNV) may be error-prone, generating other, smaller mistakes in the genome. Their studies show that at least in the area near the duplication, small insertions and deletions of the genetic material DNA are common along with single point mutations (single changes in one of the nucleotides that are building blocks of DNA). The mutation rate of those was approximately 10,000 to 100,000-fold greater than for spontaneous mutations generated during formation of human sperm and egg. NHGRI helped fund the study.
- September 19, 2013: Genetics in Medicine Publishes Special Issue Dedicated to Genomics in Electronic Health Records: First Collection of its Kind
From the American College of Medical Genetics: In the first collection of its kind, the October 2013 issue of Genetics in Medicine, the official peer-reviewed journal of the American College of Medical Genetics and Genomics, provides a series of research articles detailing challenges and solutions for integrating genomic data into Electronic Health Records (EHR). Most of the contributions derive from the experience of individual sites at comprise the Electronic Medical Records and Genomics (eMERGE) Network, a program administered and funded by the National Human Genome Research Institute through the National Institutes of Health.
- September 4, 2013: News Releases from Funded Research Centers: NIH Newborn Screening Grants
News Releases from reseach institutes funded by NHGRI for the NIH Newborn Screening Grants
- August 13, 2013: Researchers find "grammar" plays key role in activating genes
From UC San Francisco: Researchers have probed deep into the cell's genome, beyond the basic genetic code, to begin learning the "grammar" that helps determine whether or not a gene gets switched on to make the protein it encodes. Their discovery - that the ordering of specific DNA sequences in key regions of the genome affects the activity of genes - might advance efforts to use gene and cell-based therapies to treat disease, said UC San Francisco molecular biologist Nadav Ahituv, PhD, senior scientist on the study. The findings were published online in the journal Nature Genetics on July 28 and will appear in the September print edition. NHGRI was a major funder for the research.
- August 7, 2013: UW researchers report on genome of aggressive cervical cancer that killed Henrietta Lacks
From the University of Washington: A team from the University of Washington has unveiled a comprehensive portrait of the genome of the world's first immortal cell line, known as HeLa. The cell line was derived in 1951 from an aggressive cervical cancer that killed Henrietta Lacks, a 31-year-old African-American tobacco farmer and mother of five - the subject of the 2010 New York Times best-seller, "The Immortal Life of Henrietta Lacks." They will also be the first group to publish under a new National Institutes of Health policy for HeLa genomic data, established through discussions with Lacks' family. NHGRI helped fund the analysis.
- July 22, 2013 : Research update: Genome editing becomes more accurate
From the Massachusetts Institute of Technology: MIT researchers have developed a way to easily and efficiently edit the genomes of living cells. Now, the researchers have discovered key factors that influence the accuracy of the system, an important step toward making it safer for potential use in humans, says Feng Zhang, leader of the research team. The study appears in the July 21 online edition of Nature Biotechnology and was funded in part by NHGRI.
- July 14, 2013: NIH scientists find that proteins involved in immunity potentially cause cancer
From the National Institute of Environmental Sciences: A set of proteins involved in the body's natural defenses produces a large number of mutations in human DNA, according to a study led by researchers at the National Institute of Environmental Sciences, National Institutes of Health. The findings suggest that these naturally produced mutations are just as powerful as known cancer-causing agents in producing tumors.The findings are featured online in the journal Nature Genetics. This research was funded by NHGRI as part of The Cancer Genome Atlas (TCGA).
- July 10, 2013: Researchers Create Method to Rapidly Identify Specific Strains of Illnesss
From Boston University School of Medicine: Researchers from Boston University School of Medicine (BUSM) and George Washington University (GWU) have developed a method to rapidly identify pathogenic species and strains causing illnesses, such as pneumonia, that could help lead to earlier detection of disease outbreaks and pinpoint effective treatments more quickly. The findings are featured online in the journal Genome Research. This research was funded by NHGRI.
- July 1, 2013: UF Health receives $3.7 million to bring personalized medicine to more Floridians
From the University of Florida: Personalized medicine at University of Florida (UF) Health celebrates its first successful year helping heart patients with news of major funding from the National Institutes of Health that will advance the program to more patients and health care providers across the state. A $3.7 million grant to UF Health is one of only three awarded by the National Human Genome Research Institute to support projects that show how patients' individual genetic profiles may be used to better tailor clinical treatments.
- June 28, 2013: Henry Louis Gates Jr., Host of PBS Series Finding Your Roots, To Appear at Smithsonian Event
From the Smithsonian Institution: The Smithsonian Associates will present "The Genomic Journey, Searching for Your Roots" featuring Henry Louis Gates Jr., the host of the PBS series Finding Your Roots. During the program, Gates will trace the genetic histories of Lonnie Bunch, director of the Smithsonian's National Museum of African American History and Culture, and Gwen Ifill, host of Washington Week, live on stage Thursday, Sept. 12, at 7:30 p.m. in Baird Auditorium at the Smithsonian's National Museum of Natural History. The program, organized by the National Museum of African American History and Culture and the National Human Genome Research Institute of the National Institutes of Health, is open to the public; admission is free, but tickets are required.
- June 27, 2013: A 700.000 year old horse gets its genome sequenced
From the University of Copenhagen: Scientists at the Centre for GeoGenetics at the Natural History Museum of Denmark (University of Copenhagen) have sequenced the, so far, oldest genome from a prehistoric creature. They have done so by sequencing and analyzing short pieces of DNA molecules preserved in bone-remnants from a horse that had been kept frozen for the last 700.000 years in the permafrost of Yukon, Canada. By tracking the genomic changes that transformed prehistoric wild horses into domestic breeds, the researchers have revealed the genetic make-up of modern horses with unprecedented details. The spectacular results are now published in the international scientific journal Nature. The research was funded in part by NHGRI.
- June 13, 2013: Whole exome sequencing identifies recessive gene as cause of deafness
From the Baylor College of Medicine: Sequencing the whole exome (the protein-coding part of the gene) enabled researchers led by those at Baylor College of Medicine to identify a recessive gene mutation associated with deafness. In a report in the American Journal of Human Genetics, the international consortium of researchers described how whole exome sequencing of three hearing-impaired individuals from three unrelated Pakistani families identified two separate missense mutations in a gene known as KARS, which codes for a protein called lysl-tRNA synthetase, and how they ascertained that these particular gene changes could be damaging. The research was funded in part by NHGRI.
- April 17, 2013: Coelacanth genome surfaces
From the Broad Institute: An international team of researchers has decoded the genome of a creature whose evolutionary history is both enigmatic and illuminating: the African coelacanth. A sea-cave dwelling, five-foot long fish with limb-like fins, the coelacanth was once thought to be extinct. A living coelacanth was discovered off the African coast in 1938, and since then, questions about these ancient-looking fish - popularly known as "living fossils" - have loomed large. Coelacanths today closely resemble the fossilized skeletons of their more than 300-million-year-old ancestors. Its genome confirms what many researchers had long suspected: genes in coelacanths are evolving more slowly than in other organisms. NHGRI supported the Broad Institute's contributions, including genome sequencing.
- April 4, 2013: Painted turtle gets DNA decoded
From Washington University in St. Louis: Scientists have decoded the genome of the western painted turtle, one of the most abundant turtles on Earth, finding clues to their longevity and ability to survive without oxygen during long winters spent hibernating in ice-covered ponds. Understanding the natural mechanisms turtles use to protect the heart and brain from oxygen deprivation may one day improve treatments for heart attacks or strokes, the researchers say. The research team includes scientists at Washington University School of Medicine in St. Louis, the University of California at Los Angeles, St. Louis University and other institutions. Their analysis is now available online in Genome Biology. NHGRI helped fund the research.
- March 29, 2013: Study reveals the genetic variations that raise the risk of breast, prostate or ovarian cancer
From Cancer Research UK: Over 80 regions of the genome that can increase an individual's risk of breast, prostate and ovarian cancers have been found in the largest ever study of its kind. The research, led by scientists at the University of Cambridge and The Institute of Cancer Research, London, funded by Cancer Research UK and the Wellcome Trust, could lead to new treatments, targeted screening and a greater understanding of how these diseases develop. The results are also based, in part, on data generated by The Cancer Genome Atlas Pilot Project established by the National Cancer Institute and the National Human Genome Research Institute.
- March 24, 2013: Study finds molecular 'signature' for rapidly increasing form of esophageal cancer
From the Dana-Farber Cancer Institute: During the past 30 years, the number of patients with cancers that originate near the junction of the esophagus and stomach has increased approximately 600 percent in the United States. The first extensive probe of the DNA of these esophageal adenocarcinomas (EACs) has revealed that many share a distinctive mix-up of letters of the genetic code, and found more than 20 mutated genes that had not previously been linked to the disease. The research, led by scientists at Dana-Farber Cancer Institute, the Broad Institute, and other research centers, may offer clues to why EAC rates have risen so sharply. The findings, which are being released as an advanced online publication by Nature Genetics, point to an array of abnormal genes and proteins that may be lynchpins of EAC cell growth and therefore serve as targets for new therapies, according to the study's authors. The work was supported in part by grants from the National Human Genome Research Institute.
- March 19, 2013: New Database to Speed Genetic Discoveries
From Johns Hopkins Medicine: A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the database, known as PhenoDB, enables any clinician to document cases of unusual genetic diseases for analysis by researchers at the Johns Hopkins University School of Medicine or the Baylor College of Medicine in Houston. If a review committee agrees that the patient may indeed have a previously unknown genetic disease, the patient and some of his or her family members may be offered free comprehensive genetic testing in an effort to identify the disease culprit. The Baylor-Hopkins Center for Mendelian Genomics is funded by the National Human Genome Research Institute.
- March 6, 2013: Circuitry of cells involved in immunity, autoimmune diseases exposed
From the Broad Institute: New work from the Broad Institute's Klarman Cell Observatory, Brigham and Women's Hospital, Harvard University, MIT, and Yale University expands the understanding of how one type of immune cell - known as a T helper 17 or Th17 cell - develops, and how its growth influences the development of immune responses. By figuring out how these cells are "wired," the researchers make a surprising connection between autoimmunity and salt consumption, highlighting the interplay of genetics and environmental factors in disease susceptibility. The results of their work appear in three companion papers in Nature this week. Support for this work was provided in part by the National Human Genome Research Institute.
- February 24, 2013: Ancient lamprey DNA decoded
From Michigan State University: In the current issue of Nature Genetics, a team of scientists has presented an assembly of the sea lamprey genome - the first time the entire sequence has been decoded. The data is compelling as the sea lamprey is one of the few ancient, jawless species that has survived through the modern era. The paper not only sheds light on how the venerable invasive species adapted and thrived, but it also provides many insights into the evolution of all vertebrates, species with backbones and spinal cords, which includes humans. The research was funded primarily by the National Human Genome Research Institute.
- January 23, 2013: NIH clinical trial begins for treatment of rare, fatal neurological disorder
From the National Center for Advancing Translational Sciences: A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced. Scientists from the NIH"s National Center for Advancing Translational Sciences (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) will conduct the clinical trial at the NIH Clinical Center. Reaching this trial stage required collaboration among government, industry, patient advocacy groups and academic researchers. NHGRI is one of the collaborating institutions on the research.
- January 20, 2013: Genes And Their Regulatory 'Tags' Conspire To Promote Rheumatoid Arthritis
From Johns Hopkins Medicine: In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA), an immune disorder that afflicts an estimated 1.5 million American adults. By teasing apart the tagging events that result from RA from those that help cause it, the scientists say they were able to spot tagged DNA sequences that may be important for the development of RA. And they suspect their experimental method can be applied to predict similar risk factors for other common, noninfectious diseases, like type II diabetes and heart ailments. In a report published in Nature Biotechnology on Jan. 20, the researchers at Johns Hopkins and the Karolinska Institutet say their study bridges the gap between whole-genome genetic sequencing and diseases that have no single or direct genetic cause. The study was funded in part by the NHGRI Centers of Excellence in Genomic Scienes program.
- December 23, 2012: New findings in the search for genetic clues to insulin production
From the University of North Carolina: A cutting-edge genomic analysis method has helped researchers track new genetic contributors relevant to diabetes. The results provide a first example that the new tool can help decipher many complex diseases such as obesity and cancer. NHGRI helped fund the research.
- December 19, 2012: What do leeches, limpets and worms have in common?
From the University of California at Berkeley: A multinational team, led by researchers at UC Berkeley, published the genomes of the leech and two relatives, the limpet and the marine worm, or polychaete, in the Dec. 20 issue of the journal Nature. The publication comes after five years of efforts analyzing mountains of information provided by the initial sequencing effort to learn what leeches have in common with other animals another and with humans. NHGRI helped fund this research.
- November 19, 2012: International team of investigators discovers likely basis of birth defect causing premature skull closure in infants
From the University of California Davis Mind Institute: An international team of geneticists, pediatricians, surgeons, and epidemiologists from 23 institutions across three continents have identified two areas of the human genome associated with the most common form of non-syndromic craniosynostosis - premature closure of the bony plates of the skull. The research was supported in part by grants from NHGRI.
- October 24, 2012: New Approach Will Analyze Important, Poorly Studied Areas of Human Genome
From the Baylor College of Medicine: The latest genomic analysis of pancreatic tumors identified two new pathways involved in the disease, information that could be capitalized on to develop new and earlier diagnostic tests for the disease. A study of pancreatic cancer published online in the October 24 edition of Nature suggests that the disease sometimes involves alterations to genes and pathways best known for their role in axon guidance during embryonic development. The study is the first to report findings from primary tumors in the disease. Previously only cell lines or tumors transplanted into mice had been used because the tumors are so small. NHGRI helped fund the research.
- October 2, 2012: New Approach Will Analyze Important, Poorly Studied Areas of Human Genome
From the University of Wisconsin School of Medicine and Public Health: Each year, more and more pieces of the human genome puzzle fall into place, but large holes still remain. Researchers at the University of Wisconsin-Madison hope to fill in many more pieces with a new $1.1 million grant from the National Human Genome Research Institute (NHGRI). The grant will support a School of Medicine and Public Health team of researchers who have created new computational tools to analyze important yet poorly studied areas of the human genome.
- September 21, 2012: Dark matter DNA active in brain during day-night cycle
From the National Institutes of Health: Long stretches of DNA once considered inert dark matter appear to be uniquely active in a part of the brain known to control the body's 24-hour cycle, according to researchers at the National Institutes of Health. Working with material from rat brains, the researchers found some expanses of DNA contained the information that generate biologically active molecules. The levels of these molecules rose and fell, in synchrony with 24-hour cycles of light and darkness. Activity of some of the molecules peaked at night and diminished during the day, while the remainder peaked during the day and diminished during the night. The NIH Intramural Sequencing Center (NISC), an NHGRI Affilated Center, collaborated on the research.
- September 20, 2012: How the Cheetah Got its Stripes: A Genetic Tale by Standford Researchers
From Stanford University: Feral cats in Northern California have enabled researchers to unlock the biological secret behind a rare, striped cheetah found only in sub-Saharan Africa, according to researchers at the Stanford University School of Medicine, the National Cancer Institute and HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. The study is the first to identify a molecular basis of coat patterning in mammals. NHGRI's Jim Mullikin contributed to the research.
- August 21, 2012: Stem cells can become anything - but not without this protein, U-M scientists find
From the University of Michigan: Stem cells have the ability to become any type of cell in the body, but researchers weren't sure why. Now, a University of Michigan Medical School team has published a key discovery that could help answer that question. In the current issue of the prestigious journal Cell Stem Cell, researcher Yali Dou, Ph.D., and her team show the crucial role of a protein called Mof in preserving the "stem-ness" of stem cells, and priming them to become specialized cells in mice. NHGRI helped fund the research.
- August 2, 2012: Brain Development is Delayed in Attention-Deficit/Hyperactivity Disorder
From Biological Psychiatry: Is attention-deficit/hyperactivity disorder (ADHD) due to a delay in brain development or the result of complete deviation from typical development? In the current issue of Biological Psychiatry, Dr. Philip Shaw and colleagues present evidence for delay from a National Institutes of Health study. Dr. Shaw is an investigator with NHGRI's Social and Behavioral Research Branch.
- July 30, 2012: Penn-led Study of African Hunter-Gatherers Elucidates Human Variation, Evolution and Interbreeding
From the University of Pennsylvania: A history of inheritance is written in the DNA of modern Africans, but it takes some investigative work to interpret. In a report to be featured on the cover of the Aug. 3 issue of the journal Cell, University of Pennsylvania geneticists and their colleagues analyze the fully sequenced genomes of 15 Africans belonging to three different hunter-gatherer groups and decipher some of what these genetic codes have to say about human diversity and evolution. The research was funded in part by NHGRI.
- July 20, 2012: Hundreds of random mutations in leukemia related to aging, not cancer
From the University of Washington in St. Louis: Hundreds of mutations exist in leukemia cells at the time of diagnosis, but nearly all occur randomly as a part of normal aging and are not related to cancer, new research shows. Scientists at Washington University School of Medicine in St. Louis have found that even in healthy people, stem cells in the blood routinely accumulate new mutations over the course of a person's lifetime. And their research shows that in many cases only two or three additional genetic changes are required to transform a normal blood cell already dotted with mutations into acute myeloid leukemia (AML). The research is published July 20 in the journal Cell. NHGRI helped fund the research.
- July 8, 2012: Exome sequencing of health condition extremes can reveal susceptibility genes
From the University of Washington: Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. The results of the cystic fibrosis infection susceptibility study appear this Sunday, July 8, in Nature Genetics.The study was funded in part by NHGRI.
- July 5, 2012: NIH Common Fund announces new programs
From the National Institutes of Health: New programs exploring novel approaches to cell-to-cell communication, and understanding undiagnosed diseases, are the latest priorities for the National Institutes of Health Common Fund. The Undiagnosed Diseases Program (UDP) - led by NHGRI Clinical Director William Gahl, M.D., Ph.D. - will provide a new network of medical research centers focused on the discovery, diagnosis, and ultimately care of undiagnosed patients by capitalizing on recent advances in genomics and the infusion of basic researchers in clinical projects.
- June 13, 2012: The bonobo genome compared with the chimpanzee and human genomes
From the Max Planck Institute: In a project led by the Max Planck Institute for Evolutionary Anthropology in Leipzig, an international team of scientists has completed the sequencing and analysis of the genome of the last great ape, the bonobo. Bonobos, which together with chimpanzees are the closest living relatives of humans, are known for their peaceful, playful and sexual behaviour that contrasts with the more aggressive behaviour of chimpanzees. The genome sequence provides insights into the evolutionary relationships between the great apes and may help us to understand the genetic basis of these traits.
- June 11, 2012: Decoding DNA finds breast tumor signatures that predict tumor response
From the Washington University in St. Louis: Decoding the DNA of patients with advanced breast cancer has allowed scientists to identify distinct cancer "signatures" that could help predict which women are most likely to benefit from estrogen-lowering therapy, while sparing others from unnecessary treatment. The research, which involved Washington University physicians and scientists at the Siteman Cancer Center and The Genome Institute, was published June 10 in the advance online edition of Nature. The research was funded in part by the National Human Genome Research Institute.
- June 4, 2012: How Infectious Disease May Have Shaped Human Origins
From the UC San Diego Health System: In a paper published in the June 4, 2012 online Early Edition of The Proceedings of the National Academy of Sciences, an international team of researchers, led by scientists at the University of California, San Diego School of Medicine, suggest that inactivation of two specific genes related to the immune system may have conferred selected ancestors of modern humans with improved protection from some pathogenic bacterial strains, such as Escherichia coliK1 and Group B Streptococci, the leading causes of sepsis and meningitis in human fetuses, newborns and infants.
- May 9, 2012: New under the sun: recurrent genetic mutations in melanoma
From the Broad Institute: Melanoma - the deadliest and most aggressive form of skin cancer - has long been linked to time spent in the sun. Now a team led by scientists from the Broad Institute and Dana-Farber Cancer Institute has sequenced the whole genomes of 25 metastatic melanoma tumors, confirming the role of chronic sun exposure and revealing new genetic changes important in tumor formation. In an article published online May 9 in Nature, the authors provide the first high-resolution view of the genomic landscape of human melanoma tumors. The work was supported in part by the National Human Genome Research Institute.
- April 25, 2012: Researchers announce GenomeSpace environment to connect genomic tools
From the Broad Institute: Researchers from the Broad Institute of MIT and Harvard have announced that GenomeSpace, a software environment that seamlessly connects genomic analysis tools, is now available to the scientific community. During her keynote address at Bio-IT World Conference and Expo on Tuesday, Jill Mesirov, director of computational biology and bioinformatics at the Broad Institute, invited biomedical researchers and tool developers to explore this beta release of the new resource and to use it in their work.
- April 5, 2012: DNA sequencing consortium unveils patterns of mutations in autism
From the Broad Institute: A consortium led by researchers from the Broad Institute, Massachusetts General Hospital (MGH), and six other organizations has taken a step toward addressing these questions by searching for mutations in the fraction of the human genome that codes for proteins. The researchers sequenced this region, known as the "exome," in 175 autism patients and their unaffected parents, looking for single-letter DNA changes present only in the children. Their results, along with simultaneously published findings from two other research groups, suggest modest roles for hundreds of genes in the development of autism and pinpoint a few specific genes as genuine risk factors. The work is described in a paper that appears online April 4 in the journal Nature. The research was supported by ARRA funding from the National Human Genome Research Institute and the National Institute of Mental Health.
- April 5, 2012: Tiny fish bares all: New insights on evolution from study of sticklebacks
From the Stanford University School of Medicine: Researchers at the Stanford University School of Medicine and the Broad Institute have analyzed the whole-genome sequence of 21 threespine sticklebacks chosen from geographic locations around the world. The findings, which will appear in the April 5 issue of Nature, better identify which regions of the genome are responsible for the stickleback's many variations. Scientists found that the animals - despite their different haunts - repeatedly developed the same traits through changes in similar regions of their genomes. The research was supported by the National Human Genome Research Institute.
- March 27, 2012: Tiny reader makes fast, cheap DNA sequencing feasible
From the University of Washington: Researchers have devised a nanoscale sensor to electronically read the sequence of a single DNA molecule, a technique that is fast and inexpensive and could make DNA sequencing widely available. The technique could lead to affordable personalized medicine, potentially revealing predispositions for afflictions such as cancer, diabetes or addiction.
- March 7, 2012: What have we got in common with a Gorilla?
From the Welcome Trust Sanger Institute: Researchers announce today that they have completed the genome sequence for the gorilla - the last genus of the living great apes to have its genome decoded. While confirming that our closest relative is the chimpanzee, the team show that much of the human genome more closely resembles the gorilla than it does the chimpanzee genome. This is the first time scientists have been able to compare the genomes of all four living great apes: humans, chimpanzees, gorillas and orang-utans. NHGRI researchers contributed to the study.
- February 29, 2012: Confused by genetic tests? NIH's new online tool may help
From the National Institutes of Health: An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at www.ncbi.nlm.nih.gov/gtr. [ncbi.nlm.nih.gov]
- February 17, 2012: Express Yourself: How Zygotes Sort Out Imprinted Genes
University of California at San Diego: Writing in the February 17, 2012 issue of the journal Cell, researchers at the Ludwig Institute for Cancer Research, the University of California, San Diego School of Medicine and the Toronto Western Research Institute peel away some of the enduring mystery of how zygotes or fertilized eggs determine which copies of parental genes will be used or ignored. The research was funded in part by the National Human Genome Research Institute.
- February 16, 2012: UNC-based collaboration, NC resources fuel genetics and disease discoveries
From the University of North Carolina at Chapel Hill: A series of scientific papers published this week put North Carolina at the center of a scientific resource that could help fast-track important discoveries about genetics and disease, resulting in new tests and treatments that benefit human health. Scientists have begun to create libraries of genetic material and the UNC-based Collaborative Cross is one such resource. Lead author Pardo-Manuel de Villena lauded the efforts of the collaborative cross consortium, a global group of scientists that includes National Institutes of Health Director Francis S. Collins, M.D., Ph.D., and National Human Genome Research Institute scientist Samir Kelada, Ph.D.
- February 9, 2012: Fruit Fly Genome Catalog Completed
From North Carolina State University: Scientists searching for the genomics version of the holy grail - more insight into predicting how an animal's genes affect physical or behavioral traits - now have a reference manual that should speed gene discoveries in everything from pest control to personalized medicine. In a paper published Feb. 8 in Nature, North Carolina State University genetics researchers team with scientists from across the globe to describe the new reference manual - the Drosophila melanogaster Reference Panel, or DGRP. The research was funded in part by the National Human Genome Research Institute.
- January 12, 2012: Gut microbe networks differ from norm in obese people, systems biology approach reveals
From the University of Washington: For the first time, researchers have analyzed the multitude of microorganisms residing in the human gut as a complex, integrated biological system, rather than a set of separate species. Their approach has revealed patterns that correspond with excess body weight. The research was funded in part by the National Human Genome Research Institute.
- January 11, 2012: Chemotherapy may influence leukemia relapse
From the Washington University in St. Louis: The chemotherapy drugs required to push a common form of adult leukemia into remission may contribute to DNA damage that can lead to a relapse of the disease in some patients, findings of a new study suggest. The research, by a team of physicians and scientists at Washington University School of Medicine in St. Louis, is published Jan. 11 in the advance online edition of Nature. The research was funded in part by the National Human Genome Research Institute.
Last Updated: November 25, 2013